Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2000-05

AUTHORS

Zoha Kibar, Marie-Pierre Dubé, Julie Powell, Catherine McCuaïg, Susan J Hayflick, Jonathan Zonana, Alain Hovnanian, Uppala Radhakrishna, Stylianos E Antonarakis, Antranik Benohanian, Amy D Sheeran, Mark L Stephan, Richard Gosselin, David P Kelsell, Arnold L Christianson, F Clarke Fraser, Vazken M Der Kaloustian, Guy A Rouleau

ABSTRACT

HED is an autosomal dominant skin disorder that is particularly common in the French Canadian population of south-west Quebec. We previously mapped the HED gene to the pericentromeric region of chromosome 13q using linkage analysis in eight French Canadian families. In this study, we extend our genetic analysis to include a multiethnic group of 29 families with 10 polymorphic markers spanning 5.1 cM in the candidate region. Two-point linkage analysis strongly suggests absence of genetic heterogeneity in HED in four families of French, Spanish, African and Malaysian origins. Multipoint linkage analysis in all 29 families generated a peak lod score of 53.5 at D13S1835 with a 1 lod unit support interval spanning 1.8 cM. Recombination mapping placed the HED gene in a 2.4 cM region flanked by D13S1828 proximally and D13S1830 distally. We next show evidence for a strong founder effect in families of French Canadian origin thereby representing the first example of a founder disease in the south-west part of the province of Quebec. Significant association was found between HED in these families and all markers analysed (Fisher's exact test, P < 0.001). Complete allelic association was detected at D13S1828, D13S1827, D13S1835, D13S141 and D13S175 (P(excess) = 1) spanning 1.3 cM. A major haplotype including all 10 associated alleles was present on 65% of affected chromosomes. This haplotype most likely represents the founder haplotype that introduced the HED mutation into the French Canadian population. Luria-Delbrück equations and multipoint likelihood linkage disequilibrium analysis positioned the gene at the D13S1828 locus (likely range estimate: 1.75 cM) and 0.58 cM telomeric to this marker (support interval: 3.27 cM) respectively. More... »

PAGES

5200471

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200471

DOI

http://dx.doi.org/10.1038/sj.ejhg.5200471

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1045180143

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10854098


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Alleles", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Canada", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosome Mapping", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 13", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ectodermal Dysplasia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Founder Effect", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Haplotypes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Linkage Disequilibrium", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "McGill University", 
          "id": "https://www.grid.ac/institutes/grid.14709.3b", 
          "name": [
            "Centre for Research in Neurosciences, Montreal General Hospital Research Institute, Montr\u00e9al, Canada", 
            "McGill University, Montr\u00e9al, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kibar", 
        "givenName": "Zoha", 
        "id": "sg:person.01001633347.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001633347.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McGill University", 
          "id": "https://www.grid.ac/institutes/grid.14709.3b", 
          "name": [
            "Centre for Research in Neurosciences, Montreal General Hospital Research Institute, Montr\u00e9al, Canada", 
            "McGill University, Montr\u00e9al, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dub\u00e9", 
        "givenName": "Marie-Pierre", 
        "id": "sg:person.01327242730.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327242730.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Montreal", 
          "id": "https://www.grid.ac/institutes/grid.14848.31", 
          "name": [
            "D\u00e9partment de Dermatologie, H\u00f4pital Sainte Justine and Universit\u00e9 de Montr\u00e9al, Qu\u00e9bec, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Powell", 
        "givenName": "Julie", 
        "id": "sg:person.015502776202.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015502776202.01"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Montreal", 
          "id": "https://www.grid.ac/institutes/grid.14848.31", 
          "name": [
            "D\u00e9partment de Dermatologie, H\u00f4pital Sainte Justine and Universit\u00e9 de Montr\u00e9al, Qu\u00e9bec, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "McCua\u00efg", 
        "givenName": "Catherine", 
        "id": "sg:person.01071300516.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071300516.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Oregon Health & Science University", 
          "id": "https://www.grid.ac/institutes/grid.5288.7", 
          "name": [
            "Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hayflick", 
        "givenName": "Susan J", 
        "id": "sg:person.01025714472.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01025714472.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Oregon Health & Science University", 
          "id": "https://www.grid.ac/institutes/grid.5288.7", 
          "name": [
            "Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zonana", 
        "givenName": "Jonathan", 
        "id": "sg:person.0633476100.76", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0633476100.76"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Centre for Human Genetics", 
          "id": "https://www.grid.ac/institutes/grid.270683.8", 
          "name": [
            "The Wellcome Trust Centre for Human Genetics, University of Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hovnanian", 
        "givenName": "Alain", 
        "id": "sg:person.01006604555.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01006604555.54"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Geneva", 
          "id": "https://www.grid.ac/institutes/grid.8591.5", 
          "name": [
            "Division of Medical Genetics, University of Geneva, Medical School and University Hospital, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Radhakrishna", 
        "givenName": "Uppala", 
        "id": "sg:person.01255652112.69", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01255652112.69"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Geneva", 
          "id": "https://www.grid.ac/institutes/grid.8591.5", 
          "name": [
            "Division of Medical Genetics, University of Geneva, Medical School and University Hospital, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Antonarakis", 
        "givenName": "Stylianos E", 
        "id": "sg:person.014566311317.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014566311317.54"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier de l\u2019Universit\u00e9 de Montr\u00e9al", 
          "id": "https://www.grid.ac/institutes/grid.410559.c", 
          "name": [
            "Service de Dermatologie, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al, Qu\u00e9bec, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Benohanian", 
        "givenName": "Antranik", 
        "id": "sg:person.01262536267.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262536267.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Indiana University \u2013 Purdue University Indianapolis", 
          "id": "https://www.grid.ac/institutes/grid.257413.6", 
          "name": [
            "Department of Medical and Molecular Genetics, Indiana University, Indianapolis, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sheeran", 
        "givenName": "Amy D", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Madigan Army Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.416237.5", 
          "name": [
            "Developmental Pediatrics and Dysmorphology, Madigan Army Medical Center, Tacoma, Washington, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stephan", 
        "givenName": "Mark L", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Centre Hospitalier de l'Universit\u00e9 de Sherbrook, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gosselin", 
        "givenName": "Richard", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal London Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416041.6", 
          "name": [
            "Centre for Cutaneous Research, St Bartholomew's and the Royal London Hospital, London, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kelsell", 
        "givenName": "David P", 
        "id": "sg:person.01327234065.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327234065.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Pretoria", 
          "id": "https://www.grid.ac/institutes/grid.49697.35", 
          "name": [
            "Department of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, South Africa"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Christianson", 
        "givenName": "Arnold L", 
        "id": "sg:person.0736512456.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0736512456.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Montreal Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416084.f", 
          "name": [
            "McGill University, Montr\u00e9al, Canada", 
            "F Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, Montreal Children's Hospital, Montr\u00e9al, Qu\u00e9bec, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fraser", 
        "givenName": "F Clarke", 
        "id": "sg:person.01077524014.26", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01077524014.26"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Montreal Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416084.f", 
          "name": [
            "McGill University, Montr\u00e9al, Canada", 
            "F Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, Montreal Children's Hospital, Montr\u00e9al, Qu\u00e9bec, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Der Kaloustian", 
        "givenName": "Vazken M", 
        "id": "sg:person.0101161522.66", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0101161522.66"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McGill University", 
          "id": "https://www.grid.ac/institutes/grid.14709.3b", 
          "name": [
            "Centre for Research in Neurosciences, Montreal General Hospital Research Institute, Montr\u00e9al, Canada", 
            "McGill University, Montr\u00e9al, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rouleau", 
        "givenName": "Guy A", 
        "id": "sg:person.01001142010.98", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001142010.98"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1001/archderm.1976.01630340066019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007934581"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.1995.1227", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008920650"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/387080a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017615074", 
          "https://doi.org/10.1038/387080a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1083/jcb.115.4.1077", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019546801"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/5.4.543", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027569234"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19960628)63:4<549::aid-ajmg7>3.0.co;2-j", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030809703"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/archderm.1977.01640040089014", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034755939"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1111/1523-1747.ep12393218", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038363245", 
          "https://doi.org/10.1111/1523-1747.ep12393218"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1365-2133.1999.02837.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043469599"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1111/1523-1747.ep12295239", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044148566", 
          "https://doi.org/10.1111/1523-1747.ep12295239"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.84.8.2363", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044151047"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302383", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058609959"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2000-05", 
    "datePublishedReg": "2000-05-01", 
    "description": "HED is an autosomal dominant skin disorder that is particularly common in the French Canadian population of south-west Quebec. We previously mapped the HED gene to the pericentromeric region of chromosome 13q using linkage analysis in eight French Canadian families. In this study, we extend our genetic analysis to include a multiethnic group of 29 families with 10 polymorphic markers spanning 5.1 cM in the candidate region. Two-point linkage analysis strongly suggests absence of genetic heterogeneity in HED in four families of French, Spanish, African and Malaysian origins. Multipoint linkage analysis in all 29 families generated a peak lod score of 53.5 at D13S1835 with a 1 lod unit support interval spanning 1.8 cM. Recombination mapping placed the HED gene in a 2.4 cM region flanked by D13S1828 proximally and D13S1830 distally. We next show evidence for a strong founder effect in families of French Canadian origin thereby representing the first example of a founder disease in the south-west part of the province of Quebec. Significant association was found between HED in these families and all markers analysed (Fisher's exact test, P < 0.001). Complete allelic association was detected at D13S1828, D13S1827, D13S1835, D13S141 and D13S175 (P(excess) = 1) spanning 1.3 cM. A major haplotype including all 10 associated alleles was present on 65% of affected chromosomes. This haplotype most likely represents the founder haplotype that introduced the HED mutation into the French Canadian population. Luria-Delbr\u00fcck equations and multipoint likelihood linkage disequilibrium analysis positioned the gene at the D13S1828 locus (likely range estimate: 1.75 cM) and 0.58 cM telomeric to this marker (support interval: 3.27 cM) respectively.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/sj.ejhg.5200471", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2490342", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103410", 
        "issn": [
          "1018-4813", 
          "1476-5438"
        ], 
        "name": "European Journal of Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "5", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "8"
      }
    ], 
    "name": "Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping", 
    "pagination": "5200471", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "d7356b9d998a239795531f555518331d3c306dea79b6bd584144546d07181dee"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "10854098"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9302235"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/sj.ejhg.5200471"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1045180143"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/sj.ejhg.5200471", 
      "https://app.dimensions.ai/details/publication/pub.1045180143"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T11:57", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000359_0000000359/records_29216_00000002.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/5200471"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200471'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200471'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200471'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200471'


 

This table displays all metadata directly associated to this object as RDF triples.

312 TRIPLES      21 PREDICATES      54 URIs      34 LITERALS      22 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/sj.ejhg.5200471 schema:about N06386fbf00a246c7a7fa884e470cc8df
2 N0fdc272e22144aa297f28df6e8baaefd
3 N18ad4ab2add145b19fd48d506071d4b9
4 N4915fb62b4004f77ba221191c6b696ac
5 N4e86353fe5f5487fb0d7d2750fe173b9
6 N721fff2646ba482599d95b0b93aa02c7
7 N74b7d1cb3afd4b418678b5c4899fd6aa
8 N79343f3fc2f8467a825ae9f42b75d3f5
9 N869bae96f398485a899adfa464488c09
10 N9f1d6a77d99146d7acca8e56518f6a97
11 Na5f63c8bccfe4394b7bce8c9138ce103
12 Nb3afc696e861491e80997dd918e2e25e
13 Nda06bad710a74cc4bf7a85398f10f764
14 anzsrc-for:06
15 anzsrc-for:0604
16 schema:author N1ea42379ad6c4567a38d214fc270c3d4
17 schema:citation sg:pub.10.1038/387080a0
18 sg:pub.10.1111/1523-1747.ep12295239
19 sg:pub.10.1111/1523-1747.ep12393218
20 https://doi.org/10.1001/archderm.1976.01630340066019
21 https://doi.org/10.1001/archderm.1977.01640040089014
22 https://doi.org/10.1002/(sici)1096-8628(19960628)63:4<549::aid-ajmg7>3.0.co;2-j
23 https://doi.org/10.1006/geno.1995.1227
24 https://doi.org/10.1046/j.1365-2133.1999.02837.x
25 https://doi.org/10.1073/pnas.84.8.2363
26 https://doi.org/10.1083/jcb.115.4.1077
27 https://doi.org/10.1086/302383
28 https://doi.org/10.1093/hmg/5.4.543
29 schema:datePublished 2000-05
30 schema:datePublishedReg 2000-05-01
31 schema:description HED is an autosomal dominant skin disorder that is particularly common in the French Canadian population of south-west Quebec. We previously mapped the HED gene to the pericentromeric region of chromosome 13q using linkage analysis in eight French Canadian families. In this study, we extend our genetic analysis to include a multiethnic group of 29 families with 10 polymorphic markers spanning 5.1 cM in the candidate region. Two-point linkage analysis strongly suggests absence of genetic heterogeneity in HED in four families of French, Spanish, African and Malaysian origins. Multipoint linkage analysis in all 29 families generated a peak lod score of 53.5 at D13S1835 with a 1 lod unit support interval spanning 1.8 cM. Recombination mapping placed the HED gene in a 2.4 cM region flanked by D13S1828 proximally and D13S1830 distally. We next show evidence for a strong founder effect in families of French Canadian origin thereby representing the first example of a founder disease in the south-west part of the province of Quebec. Significant association was found between HED in these families and all markers analysed (Fisher's exact test, P < 0.001). Complete allelic association was detected at D13S1828, D13S1827, D13S1835, D13S141 and D13S175 (P(excess) = 1) spanning 1.3 cM. A major haplotype including all 10 associated alleles was present on 65% of affected chromosomes. This haplotype most likely represents the founder haplotype that introduced the HED mutation into the French Canadian population. Luria-Delbrück equations and multipoint likelihood linkage disequilibrium analysis positioned the gene at the D13S1828 locus (likely range estimate: 1.75 cM) and 0.58 cM telomeric to this marker (support interval: 3.27 cM) respectively.
32 schema:genre research_article
33 schema:inLanguage en
34 schema:isAccessibleForFree true
35 schema:isPartOf N03ab6054f1f34994844590f2211139db
36 Nf5f4a1825c84451791f2d3f16ee9da4c
37 sg:journal.1103410
38 schema:name Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping
39 schema:pagination 5200471
40 schema:productId N110e568593f64aa2966ecbf5f6c6be06
41 N682696c0271c44efb408295d8f133d04
42 N7189c072ea044d6190cc062f5d0215cc
43 Na0522d645aab474e9ab8b0b41e6906e4
44 Nb803155c5a634f9bbd5570ad9ec5a48c
45 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045180143
46 https://doi.org/10.1038/sj.ejhg.5200471
47 schema:sdDatePublished 2019-04-11T11:57
48 schema:sdLicense https://scigraph.springernature.com/explorer/license/
49 schema:sdPublisher N3146533fef50428e987f8348cd8b5a3f
50 schema:url http://www.nature.com/articles/5200471
51 sgo:license sg:explorer/license/
52 sgo:sdDataset articles
53 rdf:type schema:ScholarlyArticle
54 N00104911906b46fc897913121e65fff1 rdf:first Ncd7da373bbee4be897b191d1d565c4c7
55 rdf:rest N18de859459514e3c804055b62ae17a9f
56 N012b7b5466224dcaaf1f134b3c965434 rdf:first sg:person.015502776202.01
57 rdf:rest N54682b3a446b485dafcfe7ca6a41e62b
58 N03ab6054f1f34994844590f2211139db schema:volumeNumber 8
59 rdf:type schema:PublicationVolume
60 N06386fbf00a246c7a7fa884e470cc8df schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
61 schema:name Haplotypes
62 rdf:type schema:DefinedTerm
63 N0fdc272e22144aa297f28df6e8baaefd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
64 schema:name Male
65 rdf:type schema:DefinedTerm
66 N110e568593f64aa2966ecbf5f6c6be06 schema:name nlm_unique_id
67 schema:value 9302235
68 rdf:type schema:PropertyValue
69 N163ebff0b1f4480eaa02134199942633 rdf:first sg:person.0101161522.66
70 rdf:rest N90d632d8f20a4f74969641c2f813551a
71 N18ad4ab2add145b19fd48d506071d4b9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
72 schema:name Humans
73 rdf:type schema:DefinedTerm
74 N18de859459514e3c804055b62ae17a9f rdf:first sg:person.01327234065.25
75 rdf:rest Ndba50a61ab2c42bfba4dcc1153ef9302
76 N1ea42379ad6c4567a38d214fc270c3d4 rdf:first sg:person.01001633347.58
77 rdf:rest N3bf615dd37ce4b4f83c787593523cb49
78 N2747a4f306644a9bb0f55ab5da7cf1e3 rdf:first sg:person.014566311317.54
79 rdf:rest N87bf768c44114bc5ae3a742bbc27af8e
80 N3146533fef50428e987f8348cd8b5a3f schema:name Springer Nature - SN SciGraph project
81 rdf:type schema:Organization
82 N3bf615dd37ce4b4f83c787593523cb49 rdf:first sg:person.01327242730.84
83 rdf:rest N012b7b5466224dcaaf1f134b3c965434
84 N44bda5d6c5e74678afed1c191c6016c0 rdf:first sg:person.01006604555.54
85 rdf:rest Nb005f4915fd447a899610eefd5bc78f1
86 N4915fb62b4004f77ba221191c6b696ac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
87 schema:name Pedigree
88 rdf:type schema:DefinedTerm
89 N4e86353fe5f5487fb0d7d2750fe173b9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
90 schema:name Chromosomes, Human, Pair 13
91 rdf:type schema:DefinedTerm
92 N4eefc5422e7e4b5c98ab7bfbb25fccf5 schema:name Centre Hospitalier de l'Université de Sherbrook, Canada
93 rdf:type schema:Organization
94 N54682b3a446b485dafcfe7ca6a41e62b rdf:first sg:person.01071300516.18
95 rdf:rest N8bc08932d309409f8354f2af06c50e5e
96 N61e49ac6a38c43408650381e9d5a72ed rdf:first N7da65608aaeb450291ef2416f69029be
97 rdf:rest N85bd91f45eed44a59eb41d185c7b0b1d
98 N682696c0271c44efb408295d8f133d04 schema:name readcube_id
99 schema:value d7356b9d998a239795531f555518331d3c306dea79b6bd584144546d07181dee
100 rdf:type schema:PropertyValue
101 N7189c072ea044d6190cc062f5d0215cc schema:name dimensions_id
102 schema:value pub.1045180143
103 rdf:type schema:PropertyValue
104 N721fff2646ba482599d95b0b93aa02c7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
105 schema:name Canada
106 rdf:type schema:DefinedTerm
107 N74b7d1cb3afd4b418678b5c4899fd6aa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Ectodermal Dysplasia
109 rdf:type schema:DefinedTerm
110 N79343f3fc2f8467a825ae9f42b75d3f5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Female
112 rdf:type schema:DefinedTerm
113 N7da65608aaeb450291ef2416f69029be schema:affiliation https://www.grid.ac/institutes/grid.257413.6
114 schema:familyName Sheeran
115 schema:givenName Amy D
116 rdf:type schema:Person
117 N80acff8a58284872ba191e7082652391 schema:affiliation https://www.grid.ac/institutes/grid.416237.5
118 schema:familyName Stephan
119 schema:givenName Mark L
120 rdf:type schema:Person
121 N85bd91f45eed44a59eb41d185c7b0b1d rdf:first N80acff8a58284872ba191e7082652391
122 rdf:rest N00104911906b46fc897913121e65fff1
123 N869bae96f398485a899adfa464488c09 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name Genotype
125 rdf:type schema:DefinedTerm
126 N87bf768c44114bc5ae3a742bbc27af8e rdf:first sg:person.01262536267.92
127 rdf:rest N61e49ac6a38c43408650381e9d5a72ed
128 N8bc08932d309409f8354f2af06c50e5e rdf:first sg:person.01025714472.58
129 rdf:rest Na673f484a7a34fc9922900fd23818fce
130 N90d632d8f20a4f74969641c2f813551a rdf:first sg:person.01001142010.98
131 rdf:rest rdf:nil
132 N9f1d6a77d99146d7acca8e56518f6a97 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
133 schema:name Alleles
134 rdf:type schema:DefinedTerm
135 Na0522d645aab474e9ab8b0b41e6906e4 schema:name doi
136 schema:value 10.1038/sj.ejhg.5200471
137 rdf:type schema:PropertyValue
138 Na5f63c8bccfe4394b7bce8c9138ce103 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Linkage Disequilibrium
140 rdf:type schema:DefinedTerm
141 Na673f484a7a34fc9922900fd23818fce rdf:first sg:person.0633476100.76
142 rdf:rest N44bda5d6c5e74678afed1c191c6016c0
143 Nb005f4915fd447a899610eefd5bc78f1 rdf:first sg:person.01255652112.69
144 rdf:rest N2747a4f306644a9bb0f55ab5da7cf1e3
145 Nb3afc696e861491e80997dd918e2e25e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
146 schema:name Chromosome Mapping
147 rdf:type schema:DefinedTerm
148 Nb803155c5a634f9bbd5570ad9ec5a48c schema:name pubmed_id
149 schema:value 10854098
150 rdf:type schema:PropertyValue
151 Ncd7da373bbee4be897b191d1d565c4c7 schema:affiliation N4eefc5422e7e4b5c98ab7bfbb25fccf5
152 schema:familyName Gosselin
153 schema:givenName Richard
154 rdf:type schema:Person
155 Nda06bad710a74cc4bf7a85398f10f764 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
156 schema:name Founder Effect
157 rdf:type schema:DefinedTerm
158 Ndba50a61ab2c42bfba4dcc1153ef9302 rdf:first sg:person.0736512456.39
159 rdf:rest Nec5ccbafc2224ff0b7d219f36fb62634
160 Nec5ccbafc2224ff0b7d219f36fb62634 rdf:first sg:person.01077524014.26
161 rdf:rest N163ebff0b1f4480eaa02134199942633
162 Nf5f4a1825c84451791f2d3f16ee9da4c schema:issueNumber 5
163 rdf:type schema:PublicationIssue
164 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
165 schema:name Biological Sciences
166 rdf:type schema:DefinedTerm
167 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
168 schema:name Genetics
169 rdf:type schema:DefinedTerm
170 sg:grant.2490342 http://pending.schema.org/fundedItem sg:pub.10.1038/sj.ejhg.5200471
171 rdf:type schema:MonetaryGrant
172 sg:journal.1103410 schema:issn 1018-4813
173 1476-5438
174 schema:name European Journal of Human Genetics
175 rdf:type schema:Periodical
176 sg:person.01001142010.98 schema:affiliation https://www.grid.ac/institutes/grid.14709.3b
177 schema:familyName Rouleau
178 schema:givenName Guy A
179 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001142010.98
180 rdf:type schema:Person
181 sg:person.01001633347.58 schema:affiliation https://www.grid.ac/institutes/grid.14709.3b
182 schema:familyName Kibar
183 schema:givenName Zoha
184 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001633347.58
185 rdf:type schema:Person
186 sg:person.01006604555.54 schema:affiliation https://www.grid.ac/institutes/grid.270683.8
187 schema:familyName Hovnanian
188 schema:givenName Alain
189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01006604555.54
190 rdf:type schema:Person
191 sg:person.0101161522.66 schema:affiliation https://www.grid.ac/institutes/grid.416084.f
192 schema:familyName Der Kaloustian
193 schema:givenName Vazken M
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0101161522.66
195 rdf:type schema:Person
196 sg:person.01025714472.58 schema:affiliation https://www.grid.ac/institutes/grid.5288.7
197 schema:familyName Hayflick
198 schema:givenName Susan J
199 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01025714472.58
200 rdf:type schema:Person
201 sg:person.01071300516.18 schema:affiliation https://www.grid.ac/institutes/grid.14848.31
202 schema:familyName McCuaïg
203 schema:givenName Catherine
204 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071300516.18
205 rdf:type schema:Person
206 sg:person.01077524014.26 schema:affiliation https://www.grid.ac/institutes/grid.416084.f
207 schema:familyName Fraser
208 schema:givenName F Clarke
209 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01077524014.26
210 rdf:type schema:Person
211 sg:person.01255652112.69 schema:affiliation https://www.grid.ac/institutes/grid.8591.5
212 schema:familyName Radhakrishna
213 schema:givenName Uppala
214 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01255652112.69
215 rdf:type schema:Person
216 sg:person.01262536267.92 schema:affiliation https://www.grid.ac/institutes/grid.410559.c
217 schema:familyName Benohanian
218 schema:givenName Antranik
219 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262536267.92
220 rdf:type schema:Person
221 sg:person.01327234065.25 schema:affiliation https://www.grid.ac/institutes/grid.416041.6
222 schema:familyName Kelsell
223 schema:givenName David P
224 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327234065.25
225 rdf:type schema:Person
226 sg:person.01327242730.84 schema:affiliation https://www.grid.ac/institutes/grid.14709.3b
227 schema:familyName Dubé
228 schema:givenName Marie-Pierre
229 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327242730.84
230 rdf:type schema:Person
231 sg:person.014566311317.54 schema:affiliation https://www.grid.ac/institutes/grid.8591.5
232 schema:familyName Antonarakis
233 schema:givenName Stylianos E
234 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014566311317.54
235 rdf:type schema:Person
236 sg:person.015502776202.01 schema:affiliation https://www.grid.ac/institutes/grid.14848.31
237 schema:familyName Powell
238 schema:givenName Julie
239 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015502776202.01
240 rdf:type schema:Person
241 sg:person.0633476100.76 schema:affiliation https://www.grid.ac/institutes/grid.5288.7
242 schema:familyName Zonana
243 schema:givenName Jonathan
244 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0633476100.76
245 rdf:type schema:Person
246 sg:person.0736512456.39 schema:affiliation https://www.grid.ac/institutes/grid.49697.35
247 schema:familyName Christianson
248 schema:givenName Arnold L
249 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0736512456.39
250 rdf:type schema:Person
251 sg:pub.10.1038/387080a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017615074
252 https://doi.org/10.1038/387080a0
253 rdf:type schema:CreativeWork
254 sg:pub.10.1111/1523-1747.ep12295239 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044148566
255 https://doi.org/10.1111/1523-1747.ep12295239
256 rdf:type schema:CreativeWork
257 sg:pub.10.1111/1523-1747.ep12393218 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038363245
258 https://doi.org/10.1111/1523-1747.ep12393218
259 rdf:type schema:CreativeWork
260 https://doi.org/10.1001/archderm.1976.01630340066019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007934581
261 rdf:type schema:CreativeWork
262 https://doi.org/10.1001/archderm.1977.01640040089014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034755939
263 rdf:type schema:CreativeWork
264 https://doi.org/10.1002/(sici)1096-8628(19960628)63:4<549::aid-ajmg7>3.0.co;2-j schema:sameAs https://app.dimensions.ai/details/publication/pub.1030809703
265 rdf:type schema:CreativeWork
266 https://doi.org/10.1006/geno.1995.1227 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008920650
267 rdf:type schema:CreativeWork
268 https://doi.org/10.1046/j.1365-2133.1999.02837.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1043469599
269 rdf:type schema:CreativeWork
270 https://doi.org/10.1073/pnas.84.8.2363 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044151047
271 rdf:type schema:CreativeWork
272 https://doi.org/10.1083/jcb.115.4.1077 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019546801
273 rdf:type schema:CreativeWork
274 https://doi.org/10.1086/302383 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609959
275 rdf:type schema:CreativeWork
276 https://doi.org/10.1093/hmg/5.4.543 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027569234
277 rdf:type schema:CreativeWork
278 https://www.grid.ac/institutes/grid.14709.3b schema:alternateName McGill University
279 schema:name Centre for Research in Neurosciences, Montreal General Hospital Research Institute, Montréal, Canada
280 McGill University, Montréal, Canada
281 rdf:type schema:Organization
282 https://www.grid.ac/institutes/grid.14848.31 schema:alternateName University of Montreal
283 schema:name Départment de Dermatologie, Hôpital Sainte Justine and Université de Montréal, Québec, Canada
284 rdf:type schema:Organization
285 https://www.grid.ac/institutes/grid.257413.6 schema:alternateName Indiana University – Purdue University Indianapolis
286 schema:name Department of Medical and Molecular Genetics, Indiana University, Indianapolis, USA
287 rdf:type schema:Organization
288 https://www.grid.ac/institutes/grid.270683.8 schema:alternateName Wellcome Centre for Human Genetics
289 schema:name The Wellcome Trust Centre for Human Genetics, University of Oxford, UK
290 rdf:type schema:Organization
291 https://www.grid.ac/institutes/grid.410559.c schema:alternateName Centre Hospitalier de l’Université de Montréal
292 schema:name Service de Dermatologie, Centre Hospitalier de l'Université de Montréal, Québec, Canada
293 rdf:type schema:Organization
294 https://www.grid.ac/institutes/grid.416041.6 schema:alternateName Royal London Hospital
295 schema:name Centre for Cutaneous Research, St Bartholomew's and the Royal London Hospital, London, UK
296 rdf:type schema:Organization
297 https://www.grid.ac/institutes/grid.416084.f schema:alternateName Montreal Children's Hospital
298 schema:name F Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, Montreal Children's Hospital, Montréal, Québec, Canada
299 McGill University, Montréal, Canada
300 rdf:type schema:Organization
301 https://www.grid.ac/institutes/grid.416237.5 schema:alternateName Madigan Army Medical Center
302 schema:name Developmental Pediatrics and Dysmorphology, Madigan Army Medical Center, Tacoma, Washington, USA
303 rdf:type schema:Organization
304 https://www.grid.ac/institutes/grid.49697.35 schema:alternateName University of Pretoria
305 schema:name Department of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, South Africa
306 rdf:type schema:Organization
307 https://www.grid.ac/institutes/grid.5288.7 schema:alternateName Oregon Health & Science University
308 schema:name Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR, USA
309 rdf:type schema:Organization
310 https://www.grid.ac/institutes/grid.8591.5 schema:alternateName University of Geneva
311 schema:name Division of Medical Genetics, University of Geneva, Medical School and University Hospital, Switzerland
312 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...