Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

doi:10.1016/j.ajhg.2012.09.011

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Article

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

American journal of human genetics - 2 Nov 2012

Yariz Kemal O, Duman Duygu, Zazo Seco Celia, Dallman Julia, Huang Mingqian, Peters Theo A, Sirmaci Asli, Lu Na, Schraders Margit, Skromne Isaac, Oostrik Jaap, Diaz-Horta Oscar, Young Juan I, Tokgoz-Yilmaz Suna, Konukseven Ozlem, Shahin Hashem, Hetterschijt Lisette, Kanaan Moien, Oonk Anne M M, Edwards Yvonne J K, Li Huawei, Atalay Semra, Blanton Susan, Desmidt Alexandra A, Liu Xue-Zhong, Pennings Ronald J E, Lu Zhongmin, Chen Zheng-Yi, Kremer Hannie, Tekin Mustafa

Abstract excerpt

Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift (p.Val477Glufs(∗)25) in a large consanguineous family and two compound heterozygous mutations, c.547C>T (p.Arg183(∗)) and c.5238+5G>A, in a nonconsanguineous family with moderate nonsyndromic sensorineural hearing loss. OTOGL...

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Identifiers

PMID: 23122586
DOI: 10.1016/j.ajhg.2012.09.011
PMCID: PMC3487139

Genes

OTOGL

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