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Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.


ABSTRACT: Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP), and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1). Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese family (no. 7162) with USH1. Combining the targeted capture of 131 known deafness genes, next-generation sequencing, and bioinformatic analysis, we identified two deleterious compound heterozygous mutations in the MYO7A gene: a reported missense mutation c.73G>A (p.G25R) and a novel nonsense mutation c.462C>A (p.C154X). The two compound variants are absent in 219 ethnicity-matched controls, co-segregates with the USH clinical phenotypes, including hearing loss, vestibular dysfunction, and age-dependent penetrance of progressive RP, in family 7162. Therefore, we concluded that the USH1 in this family was caused by compound heterozygous mutations in MYO7A.

SUBMITTER: Gao X 

PROVIDER: S-EPMC4117490 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.

Gao Xue X   Wang Guo-Jian GJ   Yuan Yong-Yi YY   Xin Feng F   Han Ming-Yu MY   Lu Jing-Qiao JQ   Zhao Hui H   Yu Fei F   Xu Jin-Cao JC   Zhang Mei-Guang MG   Dong Jiang J   Lin Xi X   Dai Pu P  

PloS one 20140731 7


Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP), and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1). Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese family (no. 7162) with USH1. Combining the targeted capture of 131 known deafness genes, next-generation sequencing, and bioinformatic analysis, w  ...[more]

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