TY - JOUR AU - Hu, Jiongjiong AU - Liu, Fei AU - Xia, Wenjun AU - Hao, Lili AU - Lan, Jun AU - Zhu, Zhenghua AU - Ye, Jing AU - Ma, Duan AU - Ma, Zhaoxin PY - 2016 DA - 2016/01/28 TI - Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss JO - Journal of Translational Medicine SP - 29 VL - 14 IS - 1 AB - Autosomal recessive non-syndromic hearing loss (ARNSHL) is highly heterogeneous, and mutations in the gene encoding transmembrane channel-like 1 (TMC1) have been implicated in its development. To date, 35 homozygous mutations in TMC1, identified in over 60 families worldwide, have been shown to be associated with ARNSHL. However, few of these mutations were detected in the Chinese population. In this study, we describe a pathogenic missense mutation located in the T5–T6 domain of TMC1 in a three-generation Chinese family with 14 members. SN - 1479-5876 UR - https://doi.org/10.1186/s12967-016-0780-5 DO - 10.1186/s12967-016-0780-5 ID - Hu2016 ER -