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PLoS One. 2014 Jul 31;9(7):e103415. doi: 10.1371/journal.pone.0103415. eCollection 2014.

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

Author information

1
Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China; Department of Otolaryngology, Hainan Branch of PLA General Hospital, Sanya, P. R. China; Department of Otolaryngology, the Second Artillery General Hospital, Beijing, P. R. China.
2
Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China; Department of Otolaryngology, Hainan Branch of PLA General Hospital, Sanya, P. R. China.
3
Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
4
Department of Otolaryngology, Emory University School of Medicine, Atlanta, Georgia, United States of America.
5
Department of Otolaryngology, the Second Artillery General Hospital, Beijing, P. R. China.
6
Xi'an Research Institute of Hi_tech, Hongqing, Xi'an, Shaanxi, P. R. China.

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.

PMID:
25080338
PMCID:
PMC4117490
DOI:
10.1371/journal.pone.0103415
[Indexed for MEDLINE]
Free PMC Article
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