TBC1D24 Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss

被引：81

作者：

Azaiez, Hela ^{[1
]}

Booth, Kevin T. ^{[1
]}

Bu, Fengxiao ^{[1
]}

Huygen, Patrick ^{[2
]}

Shibata, Seiji B. ^{[1
]}

Shearer, A. Eliot ^{[1
,3
]}

Kolbe, Diana ^{[1
]}

Meyer, Nicole ^{[1
]}

Black-Ziegelbein, E. Ann ^{[1
]}

Smith, Richard J. H. ^{[1
,3
]}

机构：

[1] Univ Iowa Hosp & Clin, Dept Otolaryngol Head & Neck Surg, Mol Otolaryngol & Renal Res Labs, Iowa City, IA 52242 USA

[2] Radbound Univ Nijmegen, Med Ctr, Dept Otorhinolaryngol, Nijmegen, Netherlands

[3] Univ Iowa, Carver Coll Med, Dept Mol Physiol & Biophys, Iowa City, IA 52242 USA

来源：

HUMAN MUTATION | 2014年 / 35卷 / 07期

关键词：

TBC1D24; autosomal dominant; nonsyndromic; hearing loss; hearing impairment; pleiotropy; OtoSCOPE (R); COMPOUND HETEROZYGOUS MUTATIONS; DEAFNESS; GENE;

D O I：

10.1002/humu.22557

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Hereditary hearing loss 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 nonsyndromic hearing loss (NSHL), we used OtoSCOPE (R) to exclude mutations in known deafness genes and then performed segregation mapping and whole-exome sequencing 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, syndromic hearing impairment associated with onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS syndrome), and a wide range of epileptic disorders.

引用

页码：819 / 823

页数：5

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