Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-01

AUTHORS

Kristen Lipscomb Sund, Sarah L. Zimmerman, Cameron Thomas, Anna L. Mitchell, Carlos E. Prada, Lauren Grote, Liming Bao, Lisa J. Martin, Teresa A. Smolarek

ABSTRACT

PURPOSE: The purpose of this study was to document the ability of single-nucleotide polymorphism microarray to identify copy-neutral regions of homozygosity, demonstrate clinical utility of regions of homozygosity, and discuss ethical/legal implications when regions of homozygosity are associated with a parental blood relationship. METHODS: Study data were compiled from consecutive samples sent to our clinical laboratory over a 3-year period. A cytogenetics database identified patients with at least two regions of homozygosity >10 Mb on two separate chromosomes. A chart review was conducted on patients who met the criteria. RESULTS: Of 3,217 single-nucleotide polymorphism microarrays, 59 (1.8%) patients met inclusion criteria. The percentage of homozygosity ranged from 0.9 to 30.1%, indicating parental relationships from distant to first-degree relatives. First-degree kinship was suspected in the parents of at least 11 patients with regions of homozygosity covering >21.3% of their autosome. In four patients from two families, homozygosity mapping discovered a candidate gene that was sequenced to identify a clinically significant mutation. CONCLUSION: This study demonstrates clinical utility in the identification of regions of homozygosity, as these regions may aid in diagnosis of the patient. This study establishes the need for careful reporting, thorough pretest counseling, and careful electronic documentation, as microarray has the capability of detecting previously unknown/unreported relationships. More... »

PAGES

70

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2012.94

DOI

http://dx.doi.org/10.1038/gim.2012.94

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1045234953

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22858719


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/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosome Mapping", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, X", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Consanguinity", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genes, Recessive", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Diseases, Inborn", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Homozygote", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Medical Records", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Oligonucleotide Array Sequence Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single Nucleotide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Siblings", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Cincinnati Children's Hospital Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239573.9", 
          "name": [
            "Division of Human Genetics, Department of Pediatrics, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sund", 
        "givenName": "Kristen Lipscomb", 
        "id": "sg:person.01053111034.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053111034.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cincinnati Children's Hospital Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239573.9", 
          "name": [
            "Division of Human Genetics, Department of Pediatrics, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zimmerman", 
        "givenName": "Sarah L.", 
        "id": "sg:person.0766301725.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766301725.07"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cincinnati Children's Hospital Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239573.9", 
          "name": [
            "Division of Neurology, Department of Pediatrics, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Thomas", 
        "givenName": "Cameron", 
        "id": "sg:person.01326716505.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01326716505.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospitals Case Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.443867.a", 
          "name": [
            "University Hospitals Case Medical Center, Departments of Genetics and Pediatrics, Cleveland, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mitchell", 
        "givenName": "Anna L.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cincinnati Children's Hospital Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239573.9", 
          "name": [
            "Division of Human Genetics, Department of Pediatrics, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Prada", 
        "givenName": "Carlos E.", 
        "id": "sg:person.01171506535.99", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01171506535.99"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cincinnati Children's Hospital Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239573.9", 
          "name": [
            "Division of Human Genetics, Department of Pediatrics, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Grote", 
        "givenName": "Lauren", 
        "id": "sg:person.0653662654.69", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653662654.69"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cincinnati Children's Hospital Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239573.9", 
          "name": [
            "Division of Human Genetics, Department of Pediatrics, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bao", 
        "givenName": "Liming", 
        "id": "sg:person.01104161657.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104161657.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cincinnati Children's Hospital Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239573.9", 
          "name": [
            "Division of Human Genetics, Department of Pediatrics, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Martin", 
        "givenName": "Lisa J.", 
        "id": "sg:person.012771162527.94", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012771162527.94"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cincinnati Children's Hospital Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239573.9", 
          "name": [
            "Division of Human Genetics, Department of Pediatrics, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, Ohio, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Smolarek", 
        "givenName": "Teresa A.", 
        "id": "sg:person.01042246230.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042246230.25"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1093/hmg/ddi493", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000512613"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ccell.2008.01.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000753905"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000154030", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004111357"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.33939", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005253493"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320150404", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007176971"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320150404", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007176971"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/a:1014593404915", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012178421", 
          "https://doi.org/10.1023/a:1014593404915"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2008.08.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016924755"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.410380322", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021046575"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/19485565.1968.9987749", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026745440"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2010.04.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027541669"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2008.062604", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028621185"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2788.1990.tb01560.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028913884"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19970211)68:4<472::aid-ajmg20>3.0.co;2-o", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029486653"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0040-5809(77)90007-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031633711"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cll.2011.08.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036289975"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0013996", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039955304"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181fbfcc4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041190626", 
          "https://doi.org/10.1097/gim.0b013e3181fbfcc4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181fbfcc4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041190626", 
          "https://doi.org/10.1097/gim.0b013e3181fbfcc4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181fbfcc4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041190626", 
          "https://doi.org/10.1097/gim.0b013e3181fbfcc4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1094-117", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047894637", 
          "https://doi.org/10.1038/ng1094-117"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181f8baad", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048163304", 
          "https://doi.org/10.1097/gim.0b013e3181f8baad"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181f8baad", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048163304", 
          "https://doi.org/10.1097/gim.0b013e3181f8baad"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pbio.0060320", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049144287"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddl436", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050878215"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(11)60201-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051487718"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/279872", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058589995"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302661", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058610229"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/498880", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058781911"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1076403770", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2013-01", 
    "datePublishedReg": "2013-01-01", 
    "description": "PURPOSE: The purpose of this study was to document the ability of single-nucleotide polymorphism microarray to identify copy-neutral regions of homozygosity, demonstrate clinical utility of regions of homozygosity, and discuss ethical/legal implications when regions of homozygosity are associated with a parental blood relationship.\nMETHODS: Study data were compiled from consecutive samples sent to our clinical laboratory over a 3-year period. A cytogenetics database identified patients with at least two regions of homozygosity >10\u2009Mb on two separate chromosomes. A chart review was conducted on patients who met the criteria.\nRESULTS: Of 3,217 single-nucleotide polymorphism microarrays, 59 (1.8%) patients met inclusion criteria. The percentage of homozygosity ranged from 0.9 to 30.1%, indicating parental relationships from distant to first-degree relatives. First-degree kinship was suspected in the parents of at least 11 patients with regions of homozygosity covering >21.3% of their autosome. In four patients from two families, homozygosity mapping discovered a candidate gene that was sequenced to identify a clinically significant mutation.\nCONCLUSION: This study demonstrates clinical utility in the identification of regions of homozygosity, as these regions may aid in diagnosis of the patient. This study establishes the need for careful reporting, thorough pretest counseling, and careful electronic documentation, as microarray has the capability of detecting previously unknown/unreported relationships.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/gim.2012.94", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2705204", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1119411", 
        "issn": [
          "1098-3600", 
          "1530-0366"
        ], 
        "name": "Genetics in Medicine", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "15"
      }
    ], 
    "name": "Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships", 
    "pagination": "70", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "d7788897e4cc67bf078803ca0c6dff1e041f3a7ffb32802728157efd1572fe29"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "22858719"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9815831"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/gim.2012.94"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1045234953"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/gim.2012.94", 
      "https://app.dimensions.ai/details/publication/pub.1045234953"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T00:05", 
    "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/v90/0000000001_0000000264/records_8695_00000434.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/gim201294"
  }
]
 

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/gim.2012.94'

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/gim.2012.94'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/gim.2012.94'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/gim.2012.94'


 

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

267 TRIPLES      21 PREDICATES      69 URIs      35 LITERALS      23 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/gim.2012.94 schema:about N1f83507ac1b04c6f9188b2797b9c1a2b
2 N3f3b54a113b84ca7bdbb379875f8d112
3 N424a2e10d0f14770bbcdf807742e9032
4 N579b90005bac41f9b54611c0aaa13a9d
5 N5d493f92d55444c3bc48a94a81f861c6
6 N788ed236cf924aaa8049a1ccb18be7ea
7 N8dfcb9859f5143818915f5bdc0001cae
8 N9c304f269eb34b3a939b45d29cfc485b
9 Nbd70a0c1411846f2a3026af72abe71c9
10 Nd7fe0afeca754514a66f8e7bf850497e
11 Ne217a96d7e164b858cbbb5a96faa3845
12 Nec26a887b8104eb7b3f239a6f392b61c
13 Nf04fced2bdf54f6b91c2a927b7301fa5
14 Nfe14a8e0e816427ebc167cdd1153aeb2
15 anzsrc-for:11
16 anzsrc-for:1103
17 schema:author N5ff169ddffb04a7484beab22909d8ef4
18 schema:citation sg:pub.10.1023/a:1014593404915
19 sg:pub.10.1038/ng1094-117
20 sg:pub.10.1097/gim.0b013e3181f8baad
21 sg:pub.10.1097/gim.0b013e3181fbfcc4
22 https://app.dimensions.ai/details/publication/pub.1076403770
23 https://doi.org/10.1002/(sici)1096-8628(19970211)68:4<472::aid-ajmg20>3.0.co;2-o
24 https://doi.org/10.1002/ajmg.1320150404
25 https://doi.org/10.1002/ajmg.a.33939
26 https://doi.org/10.1002/ana.410380322
27 https://doi.org/10.1016/0040-5809(77)90007-7
28 https://doi.org/10.1016/j.ajhg.2008.08.007
29 https://doi.org/10.1016/j.ajhg.2010.04.006
30 https://doi.org/10.1016/j.ccell.2008.01.004
31 https://doi.org/10.1016/j.cll.2011.08.003
32 https://doi.org/10.1016/s0140-6736(11)60201-8
33 https://doi.org/10.1080/19485565.1968.9987749
34 https://doi.org/10.1086/279872
35 https://doi.org/10.1086/302661
36 https://doi.org/10.1086/498880
37 https://doi.org/10.1093/hmg/ddi493
38 https://doi.org/10.1093/hmg/ddl436
39 https://doi.org/10.1111/j.1365-2788.1990.tb01560.x
40 https://doi.org/10.1136/jmg.2008.062604
41 https://doi.org/10.1159/000154030
42 https://doi.org/10.1371/journal.pbio.0060320
43 https://doi.org/10.1371/journal.pone.0013996
44 schema:datePublished 2013-01
45 schema:datePublishedReg 2013-01-01
46 schema:description PURPOSE: The purpose of this study was to document the ability of single-nucleotide polymorphism microarray to identify copy-neutral regions of homozygosity, demonstrate clinical utility of regions of homozygosity, and discuss ethical/legal implications when regions of homozygosity are associated with a parental blood relationship. METHODS: Study data were compiled from consecutive samples sent to our clinical laboratory over a 3-year period. A cytogenetics database identified patients with at least two regions of homozygosity >10 Mb on two separate chromosomes. A chart review was conducted on patients who met the criteria. RESULTS: Of 3,217 single-nucleotide polymorphism microarrays, 59 (1.8%) patients met inclusion criteria. The percentage of homozygosity ranged from 0.9 to 30.1%, indicating parental relationships from distant to first-degree relatives. First-degree kinship was suspected in the parents of at least 11 patients with regions of homozygosity covering >21.3% of their autosome. In four patients from two families, homozygosity mapping discovered a candidate gene that was sequenced to identify a clinically significant mutation. CONCLUSION: This study demonstrates clinical utility in the identification of regions of homozygosity, as these regions may aid in diagnosis of the patient. This study establishes the need for careful reporting, thorough pretest counseling, and careful electronic documentation, as microarray has the capability of detecting previously unknown/unreported relationships.
47 schema:genre research_article
48 schema:inLanguage en
49 schema:isAccessibleForFree true
50 schema:isPartOf N17d0732d95e145cf8ccbc57309d7663e
51 Nc54d7d2419cf4d24b47f38e184c64f98
52 sg:journal.1119411
53 schema:name Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships
54 schema:pagination 70
55 schema:productId N5247975159a44fa78e61e128d2b0891a
56 N600ebd39d8184733bffab115f02b240d
57 N7f2181e006f04fb5b894087a9c2b9335
58 Nb60a872fcba9494488149a04be9ed613
59 Nec848f307cb94d1eb5723de9ef009069
60 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045234953
61 https://doi.org/10.1038/gim.2012.94
62 schema:sdDatePublished 2019-04-11T00:05
63 schema:sdLicense https://scigraph.springernature.com/explorer/license/
64 schema:sdPublisher N520e3f578ab043cbbd21215c5e28e409
65 schema:url https://www.nature.com/articles/gim201294
66 sgo:license sg:explorer/license/
67 sgo:sdDataset articles
68 rdf:type schema:ScholarlyArticle
69 N0927ddbf7b0542d8a0241a1a3956e829 rdf:first sg:person.012771162527.94
70 rdf:rest N493e8f16c63942989d073b67d5156385
71 N10013be01aab4751a0a7635a4483fb21 rdf:first sg:person.0766301725.07
72 rdf:rest Nd8ded60cd475498fb2db55df35b38146
73 N17d0732d95e145cf8ccbc57309d7663e schema:volumeNumber 15
74 rdf:type schema:PublicationVolume
75 N1f83507ac1b04c6f9188b2797b9c1a2b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
76 schema:name Chromosomes, Human, X
77 rdf:type schema:DefinedTerm
78 N3f3b54a113b84ca7bdbb379875f8d112 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
79 schema:name Genetic Diseases, Inborn
80 rdf:type schema:DefinedTerm
81 N41f9df9359624981af17bb6c9237b8c8 rdf:first sg:person.0653662654.69
82 rdf:rest N5db9e022db3e4f23a769b4af6cbd8b57
83 N424a2e10d0f14770bbcdf807742e9032 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
84 schema:name Medical Records
85 rdf:type schema:DefinedTerm
86 N449e779371b9448f918f65d005a5ed5c rdf:first sg:person.01171506535.99
87 rdf:rest N41f9df9359624981af17bb6c9237b8c8
88 N493e8f16c63942989d073b67d5156385 rdf:first sg:person.01042246230.25
89 rdf:rest rdf:nil
90 N520e3f578ab043cbbd21215c5e28e409 schema:name Springer Nature - SN SciGraph project
91 rdf:type schema:Organization
92 N5247975159a44fa78e61e128d2b0891a schema:name readcube_id
93 schema:value d7788897e4cc67bf078803ca0c6dff1e041f3a7ffb32802728157efd1572fe29
94 rdf:type schema:PropertyValue
95 N579b90005bac41f9b54611c0aaa13a9d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
96 schema:name Siblings
97 rdf:type schema:DefinedTerm
98 N5d493f92d55444c3bc48a94a81f861c6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Polymorphism, Single Nucleotide
100 rdf:type schema:DefinedTerm
101 N5db9e022db3e4f23a769b4af6cbd8b57 rdf:first sg:person.01104161657.00
102 rdf:rest N0927ddbf7b0542d8a0241a1a3956e829
103 N5ff169ddffb04a7484beab22909d8ef4 rdf:first sg:person.01053111034.58
104 rdf:rest N10013be01aab4751a0a7635a4483fb21
105 N600ebd39d8184733bffab115f02b240d schema:name dimensions_id
106 schema:value pub.1045234953
107 rdf:type schema:PropertyValue
108 N788ed236cf924aaa8049a1ccb18be7ea schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Female
110 rdf:type schema:DefinedTerm
111 N7d9fc65295cf4453ad5422b7fc95507b schema:affiliation https://www.grid.ac/institutes/grid.443867.a
112 schema:familyName Mitchell
113 schema:givenName Anna L.
114 rdf:type schema:Person
115 N7f2181e006f04fb5b894087a9c2b9335 schema:name pubmed_id
116 schema:value 22858719
117 rdf:type schema:PropertyValue
118 N8dfcb9859f5143818915f5bdc0001cae schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name Chromosome Mapping
120 rdf:type schema:DefinedTerm
121 N9c304f269eb34b3a939b45d29cfc485b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Consanguinity
123 rdf:type schema:DefinedTerm
124 Nb60a872fcba9494488149a04be9ed613 schema:name doi
125 schema:value 10.1038/gim.2012.94
126 rdf:type schema:PropertyValue
127 Nb884a47ca1db4809ae7613073781582c rdf:first N7d9fc65295cf4453ad5422b7fc95507b
128 rdf:rest N449e779371b9448f918f65d005a5ed5c
129 Nbd70a0c1411846f2a3026af72abe71c9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
130 schema:name Homozygote
131 rdf:type schema:DefinedTerm
132 Nc54d7d2419cf4d24b47f38e184c64f98 schema:issueNumber 1
133 rdf:type schema:PublicationIssue
134 Nd7fe0afeca754514a66f8e7bf850497e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Humans
136 rdf:type schema:DefinedTerm
137 Nd8ded60cd475498fb2db55df35b38146 rdf:first sg:person.01326716505.16
138 rdf:rest Nb884a47ca1db4809ae7613073781582c
139 Ne217a96d7e164b858cbbb5a96faa3845 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
140 schema:name Male
141 rdf:type schema:DefinedTerm
142 Nec26a887b8104eb7b3f239a6f392b61c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
143 schema:name Pedigree
144 rdf:type schema:DefinedTerm
145 Nec848f307cb94d1eb5723de9ef009069 schema:name nlm_unique_id
146 schema:value 9815831
147 rdf:type schema:PropertyValue
148 Nf04fced2bdf54f6b91c2a927b7301fa5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
149 schema:name Genes, Recessive
150 rdf:type schema:DefinedTerm
151 Nfe14a8e0e816427ebc167cdd1153aeb2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
152 schema:name Oligonucleotide Array Sequence Analysis
153 rdf:type schema:DefinedTerm
154 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
155 schema:name Medical and Health Sciences
156 rdf:type schema:DefinedTerm
157 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
158 schema:name Clinical Sciences
159 rdf:type schema:DefinedTerm
160 sg:grant.2705204 http://pending.schema.org/fundedItem sg:pub.10.1038/gim.2012.94
161 rdf:type schema:MonetaryGrant
162 sg:journal.1119411 schema:issn 1098-3600
163 1530-0366
164 schema:name Genetics in Medicine
165 rdf:type schema:Periodical
166 sg:person.01042246230.25 schema:affiliation https://www.grid.ac/institutes/grid.239573.9
167 schema:familyName Smolarek
168 schema:givenName Teresa A.
169 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042246230.25
170 rdf:type schema:Person
171 sg:person.01053111034.58 schema:affiliation https://www.grid.ac/institutes/grid.239573.9
172 schema:familyName Sund
173 schema:givenName Kristen Lipscomb
174 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053111034.58
175 rdf:type schema:Person
176 sg:person.01104161657.00 schema:affiliation https://www.grid.ac/institutes/grid.239573.9
177 schema:familyName Bao
178 schema:givenName Liming
179 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104161657.00
180 rdf:type schema:Person
181 sg:person.01171506535.99 schema:affiliation https://www.grid.ac/institutes/grid.239573.9
182 schema:familyName Prada
183 schema:givenName Carlos E.
184 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01171506535.99
185 rdf:type schema:Person
186 sg:person.012771162527.94 schema:affiliation https://www.grid.ac/institutes/grid.239573.9
187 schema:familyName Martin
188 schema:givenName Lisa J.
189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012771162527.94
190 rdf:type schema:Person
191 sg:person.01326716505.16 schema:affiliation https://www.grid.ac/institutes/grid.239573.9
192 schema:familyName Thomas
193 schema:givenName Cameron
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01326716505.16
195 rdf:type schema:Person
196 sg:person.0653662654.69 schema:affiliation https://www.grid.ac/institutes/grid.239573.9
197 schema:familyName Grote
198 schema:givenName Lauren
199 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653662654.69
200 rdf:type schema:Person
201 sg:person.0766301725.07 schema:affiliation https://www.grid.ac/institutes/grid.239573.9
202 schema:familyName Zimmerman
203 schema:givenName Sarah L.
204 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766301725.07
205 rdf:type schema:Person
206 sg:pub.10.1023/a:1014593404915 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012178421
207 https://doi.org/10.1023/a:1014593404915
208 rdf:type schema:CreativeWork
209 sg:pub.10.1038/ng1094-117 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047894637
210 https://doi.org/10.1038/ng1094-117
211 rdf:type schema:CreativeWork
212 sg:pub.10.1097/gim.0b013e3181f8baad schema:sameAs https://app.dimensions.ai/details/publication/pub.1048163304
213 https://doi.org/10.1097/gim.0b013e3181f8baad
214 rdf:type schema:CreativeWork
215 sg:pub.10.1097/gim.0b013e3181fbfcc4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041190626
216 https://doi.org/10.1097/gim.0b013e3181fbfcc4
217 rdf:type schema:CreativeWork
218 https://app.dimensions.ai/details/publication/pub.1076403770 schema:CreativeWork
219 https://doi.org/10.1002/(sici)1096-8628(19970211)68:4<472::aid-ajmg20>3.0.co;2-o schema:sameAs https://app.dimensions.ai/details/publication/pub.1029486653
220 rdf:type schema:CreativeWork
221 https://doi.org/10.1002/ajmg.1320150404 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007176971
222 rdf:type schema:CreativeWork
223 https://doi.org/10.1002/ajmg.a.33939 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005253493
224 rdf:type schema:CreativeWork
225 https://doi.org/10.1002/ana.410380322 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021046575
226 rdf:type schema:CreativeWork
227 https://doi.org/10.1016/0040-5809(77)90007-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031633711
228 rdf:type schema:CreativeWork
229 https://doi.org/10.1016/j.ajhg.2008.08.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016924755
230 rdf:type schema:CreativeWork
231 https://doi.org/10.1016/j.ajhg.2010.04.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027541669
232 rdf:type schema:CreativeWork
233 https://doi.org/10.1016/j.ccell.2008.01.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000753905
234 rdf:type schema:CreativeWork
235 https://doi.org/10.1016/j.cll.2011.08.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036289975
236 rdf:type schema:CreativeWork
237 https://doi.org/10.1016/s0140-6736(11)60201-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051487718
238 rdf:type schema:CreativeWork
239 https://doi.org/10.1080/19485565.1968.9987749 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026745440
240 rdf:type schema:CreativeWork
241 https://doi.org/10.1086/279872 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058589995
242 rdf:type schema:CreativeWork
243 https://doi.org/10.1086/302661 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610229
244 rdf:type schema:CreativeWork
245 https://doi.org/10.1086/498880 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058781911
246 rdf:type schema:CreativeWork
247 https://doi.org/10.1093/hmg/ddi493 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000512613
248 rdf:type schema:CreativeWork
249 https://doi.org/10.1093/hmg/ddl436 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050878215
250 rdf:type schema:CreativeWork
251 https://doi.org/10.1111/j.1365-2788.1990.tb01560.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1028913884
252 rdf:type schema:CreativeWork
253 https://doi.org/10.1136/jmg.2008.062604 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028621185
254 rdf:type schema:CreativeWork
255 https://doi.org/10.1159/000154030 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004111357
256 rdf:type schema:CreativeWork
257 https://doi.org/10.1371/journal.pbio.0060320 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049144287
258 rdf:type schema:CreativeWork
259 https://doi.org/10.1371/journal.pone.0013996 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039955304
260 rdf:type schema:CreativeWork
261 https://www.grid.ac/institutes/grid.239573.9 schema:alternateName Cincinnati Children's Hospital Medical Center
262 schema:name Division of Human Genetics, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA
263 Division of Neurology, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA
264 rdf:type schema:Organization
265 https://www.grid.ac/institutes/grid.443867.a schema:alternateName University Hospitals Case Medical Center
266 schema:name University Hospitals Case Medical Center, Departments of Genetics and Pediatrics, Cleveland, Ohio, USA
267 rdf:type schema:Organization
 




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


...