title: [Genetic analysis of GJB2 in a Chinese family with nonsyndromic hearing impairment].
abstract: Nonsyndromic neurosensory hearing impairment (NSHI) is the most common human sensory disorder. Approximately one in a thousand children is born with prelingual hearing loss. Mutations of the GJB2 gene, which encodes Connexin 26, are the most common cause of hereditary NSHI in many ethnic populations, and are responsible for 50% of cases of autosomal recessive NSHI. In this study, we recruited a complex NSHI pedigree from Jiangsu province of China. Linkage analysis of microsatellite markers flanking all known arNSHI genes linked the causative gene in the family to the polymorphic macrosatellite marker D13S175. Direct DNA sequencing of the whole coding region of GJB2 revealed that a common homozygous mutation 235delC was responsible for most of the affected members in the NSHI family.
authors: Human Genome Research Center, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China. maomaosong@gmail.com
authors: Qi-Hui
authors: QH
authors: Zhu
authors: Hu
authors: H
authors: Li
authors: Ping
authors: P
authors: Liu
authors: Zheng-Feng
authors: ZF
authors: Zhu
authors: Xu
authors: X
authors: Wang
authors: Wen-Lin
authors: WL
authors: Yuan
authors: Jing-Yu
authors: JY
authors: Liu
authors: Hai-Yan
authors: HY
authors: Mao
authors: Qing
authors: Q
authors: Wang
authors: Mu-Gen
authors: MG
authors: Liu
mesh_terms: D000328:Adult; D002681:China; D002874:Chromosome Mapping; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005192:Family Health; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26