Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2010-07

AUTHORS

Naoya Morisada, Nanna Dahl Rendtorff, Kandai Nozu, Takahiro Morishita, Takayuki Miyakawa, Tohru Matsumoto, Satoshi Hisano, Kazumoto Iijima, Lisbeth Tranebjærg, Akira Shirahata, Masafumi Matsuo, Koichi Kusuhara

ABSTRACT

A 7-year-old Japanese girl with conductive deafness and preauricular fistulae developed proteinuria. She had renal insufficiency, and ultrasound revealed bilateral small kidneys. These findings indicated that she had branchio-oto-renal (BOR) syndrome. In the present patient, we identified, by using multiplex ligation-dependent probe amplification (MLPA) analysis, a heterozygous EYA1 gene deletion comprising at least exons 5 to 7. In her parents, we did not detect any deletion in EYA1 by MLPA, so the deletion was a de novo mutation. PCR analysis and sequencing of patient DNA revealed a heterozygous approximately 17 kb EYA1 deletion starting from the eight last bases of exon 4 and proceeding to base 1,217 of intron 7. Furthermore, in place of this deleted region was inserted a 3756-bp-long interspersed nuclear elements-1 (LINE-1, L1). Accordingly, RT-PCR showed that exons 4-7 were not present in EYA1 mRNA expressed from the mutated allele. Although there are reports of L1 element insertion occurring in various human diseases, this is the first report of a large EYA1 deletion in combination with L1 element insertion. More... »

PAGES

1343-1348

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00467-010-1445-x

DOI

http://dx.doi.org/10.1007/s00467-010-1445-x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1000466134

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20130917


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": "Abnormalities, Multiple", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Branchial Region", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ear", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Deletion", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Expression Regulation, Developmental", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Intracellular Signaling Peptides and Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Kidney", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Long Interspersed Nucleotide Elements", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutagenesis, Insertional", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nuclear Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nucleic Acid Amplification Techniques", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein Tyrosine Phosphatases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "RNA, Messenger", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Renal Insufficiency", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Syndrome", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Occupational and Environmental Health Japan", 
          "id": "https://www.grid.ac/institutes/grid.271052.3", 
          "name": [
            "Department of Pediatrics, Saiseikai Yahata General Hospital, 5-9-27, Haruno-machi, Yahatahigashi-ku, 805-0050, Kitakyushu, Fukuoka, Japan", 
            "Department of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Morisada", 
        "givenName": "Naoya", 
        "id": "sg:person.01153755325.75", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153755325.75"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Copenhagen", 
          "id": "https://www.grid.ac/institutes/grid.5254.6", 
          "name": [
            "Wilhelm Johannsen Centre for Functional Genome Research, Section of Genetics, Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rendtorff", 
        "givenName": "Nanna Dahl", 
        "id": "sg:person.01104051106.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104051106.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kobe University", 
          "id": "https://www.grid.ac/institutes/grid.31432.37", 
          "name": [
            "Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nozu", 
        "givenName": "Kandai", 
        "id": "sg:person.0717317506.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717317506.56"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Occupational and Environmental Health Japan", 
          "id": "https://www.grid.ac/institutes/grid.271052.3", 
          "name": [
            "Department of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Morishita", 
        "givenName": "Takahiro", 
        "id": "sg:person.0772641711.81", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772641711.81"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Occupational and Environmental Health Japan", 
          "id": "https://www.grid.ac/institutes/grid.271052.3", 
          "name": [
            "Department of Pediatrics, Saiseikai Yahata General Hospital, 5-9-27, Haruno-machi, Yahatahigashi-ku, 805-0050, Kitakyushu, Fukuoka, Japan", 
            "Department of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Miyakawa", 
        "givenName": "Takayuki", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Matsumoto Clinic, Kitakyushu, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Matsumoto", 
        "givenName": "Tohru", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Fukuoka University", 
          "id": "https://www.grid.ac/institutes/grid.411497.e", 
          "name": [
            "Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hisano", 
        "givenName": "Satoshi", 
        "id": "sg:person.01257155521.68", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257155521.68"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kobe University", 
          "id": "https://www.grid.ac/institutes/grid.31432.37", 
          "name": [
            "Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Iijima", 
        "givenName": "Kazumoto", 
        "id": "sg:person.01360637141.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01360637141.54"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Bispebjerg Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411702.1", 
          "name": [
            "Wilhelm Johannsen Centre for Functional Genome Research, Section of Genetics, Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark", 
            "Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tranebj\u00e6rg", 
        "givenName": "Lisbeth", 
        "id": "sg:person.014474507057.76", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014474507057.76"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Occupational and Environmental Health Japan", 
          "id": "https://www.grid.ac/institutes/grid.271052.3", 
          "name": [
            "Department of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shirahata", 
        "givenName": "Akira", 
        "id": "sg:person.0661135436.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0661135436.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kobe University", 
          "id": "https://www.grid.ac/institutes/grid.31432.37", 
          "name": [
            "Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Matsuo", 
        "givenName": "Masafumi", 
        "id": "sg:person.01047254035.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01047254035.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Occupational and Environmental Health Japan", 
          "id": "https://www.grid.ac/institutes/grid.271052.3", 
          "name": [
            "Department of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kusuhara", 
        "givenName": "Koichi", 
        "id": "sg:person.01330441112.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01330441112.40"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/humu.20691", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001111183"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/12722", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003371751", 
          "https://doi.org/10.1038/12722"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/12722", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003371751", 
          "https://doi.org/10.1038/12722"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200877", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006831941", 
          "https://doi.org/10.1038/sj.ejhg.5200877"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200877", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006831941", 
          "https://doi.org/10.1038/sj.ejhg.5200877"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.37.6.458", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009708695"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gnf056", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013569073"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0297-157", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019996401", 
          "https://doi.org/10.1038/ng0297-157"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00467-006-0041-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022935336", 
          "https://doi.org/10.1007/s00467-006-0041-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00467-006-0041-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022935336", 
          "https://doi.org/10.1007/s00467-006-0041-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.32679", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024980245"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1089670", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026603190"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-005-1321-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027893669", 
          "https://doi.org/10.1007/s00439-005-1321-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-005-1321-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027893669", 
          "https://doi.org/10.1007/s00439-005-1321-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-005-1321-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027893669", 
          "https://doi.org/10.1007/s00439-005-1321-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/6.13.2247", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029835982"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.20048", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030720308"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320580413", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033394971"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320580413", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033394971"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5201900", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034214580", 
          "https://doi.org/10.1038/sj.ejhg.5201900"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/bies.20257", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045517105"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/bies.20257", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045517105"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.40.7.515", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052371013"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302890", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058610443"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/513322", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058788888"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075108524", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083230838", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2010-07", 
    "datePublishedReg": "2010-07-01", 
    "description": "A 7-year-old Japanese girl with conductive deafness and preauricular fistulae developed proteinuria. She had renal insufficiency, and ultrasound revealed bilateral small kidneys. These findings indicated that she had branchio-oto-renal (BOR) syndrome. In the present patient, we identified, by using multiplex ligation-dependent probe amplification (MLPA) analysis, a heterozygous EYA1 gene deletion comprising at least exons 5 to 7. In her parents, we did not detect any deletion in EYA1 by MLPA, so the deletion was a de novo mutation. PCR analysis and sequencing of patient DNA revealed a heterozygous approximately 17 kb EYA1 deletion starting from the eight last bases of exon 4 and proceeding to base 1,217 of intron 7. Furthermore, in place of this deleted region was inserted a 3756-bp-long interspersed nuclear elements-1 (LINE-1, L1). Accordingly, RT-PCR showed that exons 4-7 were not present in EYA1 mRNA expressed from the mutated allele. Although there are reports of L1 element insertion occurring in various human diseases, this is the first report of a large EYA1 deletion in combination with L1 element insertion.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s00467-010-1445-x", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1097267", 
        "issn": [
          "0931-041X", 
          "1432-198X"
        ], 
        "name": "Pediatric Nephrology", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "7", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "25"
      }
    ], 
    "name": "Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion", 
    "pagination": "1343-1348", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "0237da76261e6f2b1a978597549111e8724986a9ef3c1dd772250c25aec0acd2"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "20130917"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "8708728"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00467-010-1445-x"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1000466134"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00467-010-1445-x", 
      "https://app.dimensions.ai/details/publication/pub.1000466134"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T10:03", 
    "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/v90/0000000347_0000000347/records_89826_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/s00467-010-1445-x"
  }
]
 

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.10.1007/s00467-010-1445-x'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00467-010-1445-x'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00467-010-1445-x'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00467-010-1445-x'


 

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

296 TRIPLES      21 PREDICATES      67 URIs      39 LITERALS      27 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00467-010-1445-x schema:about N0cfeb64649034750af965ec3f66bbee9
2 N12ef1659b7e84edda0a54f3f7eead9ee
3 N3c5dd0ccec6e4eb9961454f015958026
4 N4027236d0769419b92eb97b0d28ccd21
5 N564e40842a67452fa01281bd8ef05b64
6 N7994d149f7ad499fad200010aa0f0f8c
7 N7aff45d68dfb4b12abd41117965b2e79
8 N7c2975ed1d1640a9bee05eccd8f3dbcc
9 N811f0c6f144240c9a39e75667a380145
10 Na0cf749768a846feae7e6ca98060bc84
11 Na1cbbddc40e7402696f0c82f3b216d11
12 Na1e3cafaff134254a3dc57a8a86238e2
13 Nb1c29e23804c49d0aa7d3c4d93fec581
14 Nce8f7c585a334f02963f15e7ec73e320
15 Ne3f1d0a048ef41d2bafd90bf2b8780fc
16 Nfb80f462bbe0420d8e9de1d794992660
17 Nfc142e444aa240ceaa1dea7b90e34412
18 Nfd96f3fdff264defa96a6dd69bd05cf2
19 anzsrc-for:06
20 anzsrc-for:0604
21 schema:author N9b574af22fec4aa1b243f87e53e1d5a1
22 schema:citation sg:pub.10.1007/s00439-005-1321-0
23 sg:pub.10.1007/s00467-006-0041-6
24 sg:pub.10.1038/12722
25 sg:pub.10.1038/ng0297-157
26 sg:pub.10.1038/sj.ejhg.5200877
27 sg:pub.10.1038/sj.ejhg.5201900
28 https://app.dimensions.ai/details/publication/pub.1075108524
29 https://app.dimensions.ai/details/publication/pub.1083230838
30 https://doi.org/10.1002/ajmg.1320580413
31 https://doi.org/10.1002/ajmg.a.32679
32 https://doi.org/10.1002/bies.20257
33 https://doi.org/10.1002/humu.20048
34 https://doi.org/10.1002/humu.20691
35 https://doi.org/10.1086/302890
36 https://doi.org/10.1086/513322
37 https://doi.org/10.1093/hmg/6.13.2247
38 https://doi.org/10.1093/nar/gnf056
39 https://doi.org/10.1126/science.1089670
40 https://doi.org/10.1136/jmg.37.6.458
41 https://doi.org/10.1136/jmg.40.7.515
42 schema:datePublished 2010-07
43 schema:datePublishedReg 2010-07-01
44 schema:description A 7-year-old Japanese girl with conductive deafness and preauricular fistulae developed proteinuria. She had renal insufficiency, and ultrasound revealed bilateral small kidneys. These findings indicated that she had branchio-oto-renal (BOR) syndrome. In the present patient, we identified, by using multiplex ligation-dependent probe amplification (MLPA) analysis, a heterozygous EYA1 gene deletion comprising at least exons 5 to 7. In her parents, we did not detect any deletion in EYA1 by MLPA, so the deletion was a de novo mutation. PCR analysis and sequencing of patient DNA revealed a heterozygous approximately 17 kb EYA1 deletion starting from the eight last bases of exon 4 and proceeding to base 1,217 of intron 7. Furthermore, in place of this deleted region was inserted a 3756-bp-long interspersed nuclear elements-1 (LINE-1, L1). Accordingly, RT-PCR showed that exons 4-7 were not present in EYA1 mRNA expressed from the mutated allele. Although there are reports of L1 element insertion occurring in various human diseases, this is the first report of a large EYA1 deletion in combination with L1 element insertion.
45 schema:genre research_article
46 schema:inLanguage en
47 schema:isAccessibleForFree false
48 schema:isPartOf N70c53a3b7f7543ae8e8ae3141af3ba6c
49 N8a3c26755a374379b52bc6dcf96f35c4
50 sg:journal.1097267
51 schema:name Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion
52 schema:pagination 1343-1348
53 schema:productId N1fd738cb35a842dd90a2af2e4108a665
54 N8d0499f1b382445face3d021730aeded
55 Na1728bcaa12f445c97e7be3ead6070cd
56 Nedc90b74e4f249df8f4e039a72df5bf6
57 Nf681c87f59664341bc3fde2f04388fe6
58 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000466134
59 https://doi.org/10.1007/s00467-010-1445-x
60 schema:sdDatePublished 2019-04-11T10:03
61 schema:sdLicense https://scigraph.springernature.com/explorer/license/
62 schema:sdPublisher Nefa3fc9483d6473b915db9fe460d2c6a
63 schema:url http://link.springer.com/10.1007/s00467-010-1445-x
64 sgo:license sg:explorer/license/
65 sgo:sdDataset articles
66 rdf:type schema:ScholarlyArticle
67 N03484103c05447b4a83a90123655a18b schema:affiliation N0f8591e39c944e4ca8d9197b1f4db63d
68 schema:familyName Matsumoto
69 schema:givenName Tohru
70 rdf:type schema:Person
71 N0cfeb64649034750af965ec3f66bbee9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
72 schema:name Gene Deletion
73 rdf:type schema:DefinedTerm
74 N0f8591e39c944e4ca8d9197b1f4db63d schema:name Matsumoto Clinic, Kitakyushu, Japan
75 rdf:type schema:Organization
76 N12ef1659b7e84edda0a54f3f7eead9ee schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
77 schema:name Ear
78 rdf:type schema:DefinedTerm
79 N1ae290b2bc654cf3aef174254476b69b schema:affiliation https://www.grid.ac/institutes/grid.271052.3
80 schema:familyName Miyakawa
81 schema:givenName Takayuki
82 rdf:type schema:Person
83 N1fd738cb35a842dd90a2af2e4108a665 schema:name doi
84 schema:value 10.1007/s00467-010-1445-x
85 rdf:type schema:PropertyValue
86 N2688bd9c6d45429d88f5af3134582e77 rdf:first sg:person.01104051106.12
87 rdf:rest Nfb817f6023364e1aab744037a9ed5b5c
88 N3c4de98635784cea8e7ef9bf441df9d1 rdf:first N03484103c05447b4a83a90123655a18b
89 rdf:rest Nf32e8ec73b6e4817a6ea4d1a4e65b1b2
90 N3c5dd0ccec6e4eb9961454f015958026 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name RNA, Messenger
92 rdf:type schema:DefinedTerm
93 N4027236d0769419b92eb97b0d28ccd21 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Child
95 rdf:type schema:DefinedTerm
96 N564e40842a67452fa01281bd8ef05b64 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
97 schema:name Humans
98 rdf:type schema:DefinedTerm
99 N5820915b0b324f4da3eaba6e72669858 rdf:first sg:person.0661135436.09
100 rdf:rest N8bc75d845d064c2aa67be9dd12a50df0
101 N66c5436dfdaa4acebec4b7555f5a90b6 rdf:first sg:person.0772641711.81
102 rdf:rest Nbf2cd2324dcf400faec205f35b64a901
103 N70c53a3b7f7543ae8e8ae3141af3ba6c schema:volumeNumber 25
104 rdf:type schema:PublicationVolume
105 N72a03bc47bc04a5888d59304e5f85ec6 rdf:first sg:person.014474507057.76
106 rdf:rest N5820915b0b324f4da3eaba6e72669858
107 N7994d149f7ad499fad200010aa0f0f8c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Mutagenesis, Insertional
109 rdf:type schema:DefinedTerm
110 N7aff45d68dfb4b12abd41117965b2e79 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Female
112 rdf:type schema:DefinedTerm
113 N7c2975ed1d1640a9bee05eccd8f3dbcc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Nucleic Acid Amplification Techniques
115 rdf:type schema:DefinedTerm
116 N811f0c6f144240c9a39e75667a380145 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Intracellular Signaling Peptides and Proteins
118 rdf:type schema:DefinedTerm
119 N8321d2c482fd45f891ca62dc45ff1dec rdf:first sg:person.01330441112.40
120 rdf:rest rdf:nil
121 N8a3c26755a374379b52bc6dcf96f35c4 schema:issueNumber 7
122 rdf:type schema:PublicationIssue
123 N8bc75d845d064c2aa67be9dd12a50df0 rdf:first sg:person.01047254035.42
124 rdf:rest N8321d2c482fd45f891ca62dc45ff1dec
125 N8d0499f1b382445face3d021730aeded schema:name dimensions_id
126 schema:value pub.1000466134
127 rdf:type schema:PropertyValue
128 N9b574af22fec4aa1b243f87e53e1d5a1 rdf:first sg:person.01153755325.75
129 rdf:rest N2688bd9c6d45429d88f5af3134582e77
130 Na0cf749768a846feae7e6ca98060bc84 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
131 schema:name Renal Insufficiency
132 rdf:type schema:DefinedTerm
133 Na1728bcaa12f445c97e7be3ead6070cd schema:name readcube_id
134 schema:value 0237da76261e6f2b1a978597549111e8724986a9ef3c1dd772250c25aec0acd2
135 rdf:type schema:PropertyValue
136 Na1b97183cb1244e2890c7cd51d4fba20 rdf:first sg:person.01360637141.54
137 rdf:rest N72a03bc47bc04a5888d59304e5f85ec6
138 Na1cbbddc40e7402696f0c82f3b216d11 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Branchial Region
140 rdf:type schema:DefinedTerm
141 Na1e3cafaff134254a3dc57a8a86238e2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
142 schema:name Gene Expression Regulation, Developmental
143 rdf:type schema:DefinedTerm
144 Nb1c29e23804c49d0aa7d3c4d93fec581 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
145 schema:name Abnormalities, Multiple
146 rdf:type schema:DefinedTerm
147 Nbf2cd2324dcf400faec205f35b64a901 rdf:first N1ae290b2bc654cf3aef174254476b69b
148 rdf:rest N3c4de98635784cea8e7ef9bf441df9d1
149 Nce8f7c585a334f02963f15e7ec73e320 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
150 schema:name Long Interspersed Nucleotide Elements
151 rdf:type schema:DefinedTerm
152 Ne3f1d0a048ef41d2bafd90bf2b8780fc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
153 schema:name Nuclear Proteins
154 rdf:type schema:DefinedTerm
155 Nedc90b74e4f249df8f4e039a72df5bf6 schema:name nlm_unique_id
156 schema:value 8708728
157 rdf:type schema:PropertyValue
158 Nefa3fc9483d6473b915db9fe460d2c6a schema:name Springer Nature - SN SciGraph project
159 rdf:type schema:Organization
160 Nf32e8ec73b6e4817a6ea4d1a4e65b1b2 rdf:first sg:person.01257155521.68
161 rdf:rest Na1b97183cb1244e2890c7cd51d4fba20
162 Nf681c87f59664341bc3fde2f04388fe6 schema:name pubmed_id
163 schema:value 20130917
164 rdf:type schema:PropertyValue
165 Nfb80f462bbe0420d8e9de1d794992660 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
166 schema:name Syndrome
167 rdf:type schema:DefinedTerm
168 Nfb817f6023364e1aab744037a9ed5b5c rdf:first sg:person.0717317506.56
169 rdf:rest N66c5436dfdaa4acebec4b7555f5a90b6
170 Nfc142e444aa240ceaa1dea7b90e34412 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
171 schema:name Kidney
172 rdf:type schema:DefinedTerm
173 Nfd96f3fdff264defa96a6dd69bd05cf2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
174 schema:name Protein Tyrosine Phosphatases
175 rdf:type schema:DefinedTerm
176 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
177 schema:name Biological Sciences
178 rdf:type schema:DefinedTerm
179 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
180 schema:name Genetics
181 rdf:type schema:DefinedTerm
182 sg:journal.1097267 schema:issn 0931-041X
183 1432-198X
184 schema:name Pediatric Nephrology
185 rdf:type schema:Periodical
186 sg:person.01047254035.42 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
187 schema:familyName Matsuo
188 schema:givenName Masafumi
189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01047254035.42
190 rdf:type schema:Person
191 sg:person.01104051106.12 schema:affiliation https://www.grid.ac/institutes/grid.5254.6
192 schema:familyName Rendtorff
193 schema:givenName Nanna Dahl
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104051106.12
195 rdf:type schema:Person
196 sg:person.01153755325.75 schema:affiliation https://www.grid.ac/institutes/grid.271052.3
197 schema:familyName Morisada
198 schema:givenName Naoya
199 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153755325.75
200 rdf:type schema:Person
201 sg:person.01257155521.68 schema:affiliation https://www.grid.ac/institutes/grid.411497.e
202 schema:familyName Hisano
203 schema:givenName Satoshi
204 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257155521.68
205 rdf:type schema:Person
206 sg:person.01330441112.40 schema:affiliation https://www.grid.ac/institutes/grid.271052.3
207 schema:familyName Kusuhara
208 schema:givenName Koichi
209 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01330441112.40
210 rdf:type schema:Person
211 sg:person.01360637141.54 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
212 schema:familyName Iijima
213 schema:givenName Kazumoto
214 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01360637141.54
215 rdf:type schema:Person
216 sg:person.014474507057.76 schema:affiliation https://www.grid.ac/institutes/grid.411702.1
217 schema:familyName Tranebjærg
218 schema:givenName Lisbeth
219 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014474507057.76
220 rdf:type schema:Person
221 sg:person.0661135436.09 schema:affiliation https://www.grid.ac/institutes/grid.271052.3
222 schema:familyName Shirahata
223 schema:givenName Akira
224 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0661135436.09
225 rdf:type schema:Person
226 sg:person.0717317506.56 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
227 schema:familyName Nozu
228 schema:givenName Kandai
229 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717317506.56
230 rdf:type schema:Person
231 sg:person.0772641711.81 schema:affiliation https://www.grid.ac/institutes/grid.271052.3
232 schema:familyName Morishita
233 schema:givenName Takahiro
234 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772641711.81
235 rdf:type schema:Person
236 sg:pub.10.1007/s00439-005-1321-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027893669
237 https://doi.org/10.1007/s00439-005-1321-0
238 rdf:type schema:CreativeWork
239 sg:pub.10.1007/s00467-006-0041-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022935336
240 https://doi.org/10.1007/s00467-006-0041-6
241 rdf:type schema:CreativeWork
242 sg:pub.10.1038/12722 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003371751
243 https://doi.org/10.1038/12722
244 rdf:type schema:CreativeWork
245 sg:pub.10.1038/ng0297-157 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019996401
246 https://doi.org/10.1038/ng0297-157
247 rdf:type schema:CreativeWork
248 sg:pub.10.1038/sj.ejhg.5200877 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006831941
249 https://doi.org/10.1038/sj.ejhg.5200877
250 rdf:type schema:CreativeWork
251 sg:pub.10.1038/sj.ejhg.5201900 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034214580
252 https://doi.org/10.1038/sj.ejhg.5201900
253 rdf:type schema:CreativeWork
254 https://app.dimensions.ai/details/publication/pub.1075108524 schema:CreativeWork
255 https://app.dimensions.ai/details/publication/pub.1083230838 schema:CreativeWork
256 https://doi.org/10.1002/ajmg.1320580413 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033394971
257 rdf:type schema:CreativeWork
258 https://doi.org/10.1002/ajmg.a.32679 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024980245
259 rdf:type schema:CreativeWork
260 https://doi.org/10.1002/bies.20257 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045517105
261 rdf:type schema:CreativeWork
262 https://doi.org/10.1002/humu.20048 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030720308
263 rdf:type schema:CreativeWork
264 https://doi.org/10.1002/humu.20691 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001111183
265 rdf:type schema:CreativeWork
266 https://doi.org/10.1086/302890 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610443
267 rdf:type schema:CreativeWork
268 https://doi.org/10.1086/513322 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058788888
269 rdf:type schema:CreativeWork
270 https://doi.org/10.1093/hmg/6.13.2247 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029835982
271 rdf:type schema:CreativeWork
272 https://doi.org/10.1093/nar/gnf056 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013569073
273 rdf:type schema:CreativeWork
274 https://doi.org/10.1126/science.1089670 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026603190
275 rdf:type schema:CreativeWork
276 https://doi.org/10.1136/jmg.37.6.458 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009708695
277 rdf:type schema:CreativeWork
278 https://doi.org/10.1136/jmg.40.7.515 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052371013
279 rdf:type schema:CreativeWork
280 https://www.grid.ac/institutes/grid.271052.3 schema:alternateName University of Occupational and Environmental Health Japan
281 schema:name Department of Pediatrics, Saiseikai Yahata General Hospital, 5-9-27, Haruno-machi, Yahatahigashi-ku, 805-0050, Kitakyushu, Fukuoka, Japan
282 Department of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan
283 rdf:type schema:Organization
284 https://www.grid.ac/institutes/grid.31432.37 schema:alternateName Kobe University
285 schema:name Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
286 rdf:type schema:Organization
287 https://www.grid.ac/institutes/grid.411497.e schema:alternateName Fukuoka University
288 schema:name Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan
289 rdf:type schema:Organization
290 https://www.grid.ac/institutes/grid.411702.1 schema:alternateName Bispebjerg Hospital
291 schema:name Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark
292 Wilhelm Johannsen Centre for Functional Genome Research, Section of Genetics, Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
293 rdf:type schema:Organization
294 https://www.grid.ac/institutes/grid.5254.6 schema:alternateName University of Copenhagen
295 schema:name Wilhelm Johannsen Centre for Functional Genome Research, Section of Genetics, Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
296 rdf:type schema:Organization
 




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


...