| A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. | |
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MedLine Citation:
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PMID: 19190672 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We have earlier described a syndrome characterized by microcephaly, cutis verticis gyrata, retinitis pigmentosa, cataracts, hearing loss and mental retardation (Mendelian inheritance in man (MIM) no: 605685) in two brothers from a non-consanguineous Lebanese family. In view of the rarity of the disorder and the high rate of inbreeding in the Lebanese population, we assumed an autosomal recessive trait inherited from a common ancestor. A genomewide scan was performed. The single locus on the long arm of chromosome 8 that showed homozygosity by descent comprised the gene responsible for Cohen syndrome (CS), VPS13B. We then sequenced VPS13B in the patients and found a homozygous splice site mutation. Several possible explanations for the overlap between CS and the clinical features observed in our patients are discussed. Our data highlight the potential of high-resolution homozygosity mapping in small populations with a high rate of inbreeding. |
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Authors:
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André Mégarbané; Rima Slim; Gudrun Nürnberg; Inga Ebermann; Peter Nürnberg; Hanno Jörn Bolz |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2009-02-04 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: 17 ISSN: 1476-5438 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-07-23 Completed Date: 2009-10-08 Revised Date: 2010-12-17 |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 1076-9 Citation Subset: IM |
Affiliation:
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Université Saint-Joseph, Beirut, Lebanon. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Case-Control Studies DNA Mutational Analysis Hearing Loss, Sensorineural / complications, genetics* Humans Male Mutation, Missense Pedigree Scalp / abnormalities* Siblings* Syndrome Vesicular Transport Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/VPS13B protein, human; 0/Vesicular Transport Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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