Document Detail

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
MedLine Citation:
PMID:  19190672     Owner:  NLM     Status:  MEDLINE    
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.
André Mégarbané; Rima Slim; Gudrun Nürnberg; Inga Ebermann; Peter Nürnberg; Hanno Jörn Bolz
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-02-04
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  17     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2009 Aug 
Date Detail:
Created Date:  2009-07-23     Completed Date:  2009-10-08     Revised Date:  2013-06-02    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1076-9     Citation Subset:  IM    
Université Saint-Joseph, Beirut, Lebanon.
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MeSH Terms
Abnormalities, Multiple / genetics*
Case-Control Studies
DNA Mutational Analysis
Hearing Loss, Sensorineural / complications,  genetics*
Mutation, Missense
Scalp / abnormalities*
Vesicular Transport Proteins / genetics*
Reg. No./Substance:
0/VPS13B protein, human; 0/Vesicular Transport Proteins

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