Linked Life Data

20451169

Source:http://linkedlifedata.com/resource/pubmed/id/20451169

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2010-5-14
pubmed:abstractText
Micrognathia, glossoptosis, and cleft palate comprise one of the most common malformation sequences, Robin sequence. It is a component of the TARP syndrome, talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava. This disorder is X-linked and severe, with apparently 100% pre- or postnatal lethality in affected males. Here we characterize a second family with TARP syndrome, confirm linkage to Xp11.23-q13.3, perform massively parallel sequencing of X chromosome exons, filter the results via a number of criteria including the linkage region, use a unique algorithm to characterize sequence changes, and show that TARP syndrome is caused by mutations in the RBM10 gene, which encodes RNA binding motif 10. We further show that this previously uncharacterized gene is expressed in midgestation mouse embryos in the branchial arches and limbs, consistent with the human phenotype. We conclude that massively parallel sequencing is useful to characterize large candidate linkage intervals and that it can be used successfully to allow identification of disease-causing gene mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1537-6605
pubmed:author
pubmed:copyrightInfo
Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
pubmed:issnType
Electronic
pubmed:day
14
pubmed:volume
86
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
743-8
pubmed:dateRevised
2011-2-9
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
pubmed:affiliation
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.
pubmed:publicationType
Journal Article, Research Support, N.I.H., Intramural