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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2010-9-9
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pubmed:abstractText |
Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and skeletal abnormalities. We sequenced the exomes of two unrelated CED patients and identified compound heterozygous mutations in WDR35 as the cause of the disease in each of the two patients independently, showing that it is possible to find the causative gene by sequencing the exome of a single sporadic patient. With RT-PCR, we demonstrate that a splice-site mutation in exon 2 of WDR35 alters splicing of RNA on the affected allele, introducing a premature stop codon. WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20817137-10607826,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/20817137-9182772
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1537-6605
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pubmed:author |
pubmed-author:ArtsHeleen HHH,
pubmed-author:ArtsPeerP,
pubmed-author:BrunnerHan GHG,
pubmed-author:GilissenChristianC,
pubmed-author:HoischenAlexanderA,
pubmed-author:KantSarina GSG,
pubmed-author:KnoersNine V A MNV,
pubmed-author:MansDorus ADA,
pubmed-author:RoepmanRonaldR,
pubmed-author:SpruijtLiesbethL,
pubmed-author:SteehouwerMarloesM,
pubmed-author:VeltmanJoris AJA,
pubmed-author:van LierBartB,
pubmed-author:van ReeuwijkJeroenJ
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pubmed:copyrightInfo |
2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:day |
10
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pubmed:volume |
87
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
418-23
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pubmed:dateRevised |
2011-7-26
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pubmed:meshHeading |
pubmed-meshheading:20817137-Abnormalities, Multiple,
pubmed-meshheading:20817137-Apoptosis Regulatory Proteins,
pubmed-meshheading:20817137-Base Sequence,
pubmed-meshheading:20817137-Child,
pubmed-meshheading:20817137-DNA Mutational Analysis,
pubmed-meshheading:20817137-Ectodermal Dysplasia,
pubmed-meshheading:20817137-Exons,
pubmed-meshheading:20817137-Humans,
pubmed-meshheading:20817137-Membrane Proteins,
pubmed-meshheading:20817137-Molecular Sequence Data,
pubmed-meshheading:20817137-Mutation,
pubmed-meshheading:20817137-RNA Splice Sites,
pubmed-meshheading:20817137-Sequence Analysis, DNA,
pubmed-meshheading:20817137-Syndrome
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pubmed:year |
2010
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pubmed:articleTitle |
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
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pubmed:affiliation |
Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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