title: The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.
abstract: Postnatal permanent childhood hearing impairment (PCHI) is frequent (0.25%-0.99%) and difficult to detect in the early stage, which may impede the speech, language and cognitive development of affected children. Genetic tests of common variants associated with postnatal PCHI in newborns may provide an efficient way to identify those at risk. In this study, we detected a strong association of the p.V37I exclusive genotype of GJB2 with postnatal PCHI in Chinese Hans (P = 1.4×10(-10); OR 62.92, 95% CI 21.27-186.12). This common genotype in Eastern Asians was present in a substantial percentage (20%) of postnatal PCHI subjects, and its prevalence was significantly increased in normal-hearing newborns who failed at least one newborn hearing screen. Our results indicated that the p.V37I exclusive genotype of GJB2 may cause subclinical hearing impairment at birth and increases risk for postnatal PCHI. Genetic testing of GJB2 in East Asian newborns will facilitate prompt detection and intervention of postnatal PCHI.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Li
authors.forename: Jingrong
authors.initials: J
authors.lastname: Lu
authors.forename: Zheng
authors.initials: Z
authors.lastname: Tao
authors.forename: Qi
authors.initials: Q
authors.lastname: Huang
authors.forename: Yongchuan
authors.initials: Y
authors.lastname: Chai
authors.forename: Xiaohua
authors.initials: X
authors.lastname: Li
authors.forename: Zhiwu
authors.initials: Z
authors.lastname: Huang
authors.forename: Yun
authors.initials: Y
authors.lastname: Li
authors.forename: Mingliang
authors.initials: M
authors.lastname: Xiang
authors.forename: Jun
authors.initials: J
authors.lastname: Yang
authors.forename: Guoyin
authors.initials: G
authors.lastname: Yao
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.forename: Tao
authors.initials: T
authors.lastname: Yang
authors.forename: Hao
authors.initials: H
authors.lastname: Wu
mesh_terms: D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26