title: [Mutations of Cx26 gene in patients with NSHL and intracellular distribution of two mutants].
abstract: To analyze the frequencies and characteristics of Cx26 gene mutations in Chinese patients with nonsyndromic hearing loss (NSHL) and investigate the intracellular localization of two mutants, 139 unrelated familial cases with non-syndromic hearing loss were screened for mutation in Cx26 gene by direct sequencing. Two mutants, p.F115C and p.V37I, were structured into pEGFP vectors and transfected into Hela cells to detect their expression and fluorescent localization in cells. Cx26 variations were detected in 31 patients, with a detection rate of 22.3%. The 10 variations included 6 types of mutations and 4 types of polymorphisms. A novel variation p.F115C was found. The fluorescent localization assay of the two mutants p.F115C and p.V37I showed no difference from the wild-type, indicating that both mutants did not impair the formation of the gap junctions.
authors: State Key Laboratory of Medical Genetics, Central South University, and Department of Otorhinolaryngology, Xiangya Hospital, Changsha 410078, China. lijingzhi@sklmg.edu.cn
authors: Jing-Zhi
authors: JZ
authors: Li
authors: Yi-Qiao
authors: YQ
authors: Hu
authors: Shu-Hui
authors: SH
authors: Wang
authors: Hong-Sheng
authors: HS
authors: Cheng
authors: Qian
authors: Q
authors: Pan
authors: Kun
authors: K
authors: Xia
authors: Zheng-Mao
authors: ZM
authors: Hu
authors: Yong
authors: Y
authors: Feng
mesh_terms: D001483:Base Sequence; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005822:Genetic Vectors / Q000378:metabolism; D006367:HeLa Cells; D034381:Hearing Loss / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D042541:Intracellular Space / Q000378:metabolism*; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26