Document Detail

TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss.
MedLine Citation:
PMID:  24729539     Owner:  NLM     Status:  Publisher    
Hereditary hearing loss (HHL) is extremely heterogeneous. Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated. In a family segregating progressive autosomal dominant non-syndromic hearing loss (ADNSHL) we used OtoSCOPE® to exclude mutations in known deafness genes and then performed segregation mapping and whole exome sequencing (WES) to identify a unique variant, p.Ser178Leu, in TBC1D24 that segregates with the hearing loss phenotype. TBC1D24 encodes a GTPase-activating protein expressed in the cochlea. Ser178 is highly conserved across vertebrates and its change is predicted to be damaging. Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL (ARNSHL), syndromic hearing impairment associated with onychodystrophy, osteodystrophy, mental retardation and seizures (DOORS syndrome), and a wide range of epileptic disorders. This article is protected by copyright. All rights reserved.
Hela Azaiez; Kevin T Booth; Fengxiao Bu; Patrick Huygen; Seiji Shibata; A Eliot Shearer; Diana Kolbe; Nicole Meyer; E Ann Black-Ziegelbein; Richard J H Smith
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-4-11
Journal Detail:
Title:  Human mutation     Volume:  -     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2014 Apr 
Date Detail:
Created Date:  2014-4-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
This article is protected by copyright. All rights reserved.
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