title: 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.
authors: 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.
authors: Xue
authors: X
authors: Gao
authors: 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.
authors: Guo-Jian
authors: GJ
authors: Wang
authors: Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
authors: Yong-Yi
authors: YY
authors: Yuan
authors: Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
authors: Feng
authors: F
authors: Xin
authors: 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.
authors: Ming-Yu
authors: MY
authors: Han
authors: Department of Otolaryngology, Emory University School of Medicine, Atlanta, Georgia, United States of America.
authors: Jing-Qiao
authors: JQ
authors: Lu
authors: 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.
authors: Hui
authors: H
authors: Zhao
authors: Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
authors: Fei
authors: F
authors: Yu
authors: Department of Otolaryngology, the Second Artillery General Hospital, Beijing, P. R. China.
authors: Jin-Cao
authors: JC
authors: Xu
authors: Department of Otolaryngology, the Second Artillery General Hospital, Beijing, P. R. China.
authors: Mei-Guang
authors: MG
authors: Zhang
authors: Xi'an Research Institute of Hi_tech, Hongqing, Xi'an, Shaanxi, P. R. China.
authors: Jiang
authors: J
authors: Dong
authors: Department of Otolaryngology, Emory University School of Medicine, Atlanta, Georgia, United States of America.
authors: Xi
authors: X
authors: Lin
authors: 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.
authors: Pu
authors: P
authors: Dai
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002681:China; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D000081412:Myosin VIIa; D009218:Myosins / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D017386:Sequence Homology, Amino Acid; D052245:Usher Syndromes / Q000235:genetics*
chemical_list: C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D009218:Myosins