The p.V37I Exclusive Genotype Of GJB2: A Genetic Risk-Indicator of Postnatal Permanent Childhood Hearing Impairment

被引：47
|
作者：
Li, Lei [1 ,2 ]
Lu, Jingrong [1 ,2 ]
Tao, Zheng [2 ,3 ]
Huang, Qi [1 ,2 ]
Chai, Yongchuan [2 ]
Li, Xiaohua [1 ,2 ]
Huang, Zhiwu [1 ,2 ]
Li, Yun [1 ,2 ]
Xiang, Mingliang [1 ,2 ]
Yang, Jun [1 ,2 ]
Yao, Guoyin [4 ]
Wang, Yu [4 ]
Yang, Tao [1 ,2 ]
Wu, Hao [1 ,2 ]
机构：
[1] Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Otolaryngol Head & Neck Surg, Shanghai 200030, Peoples R China
[2] Shanghai Jiao Tong Univ, Ear Inst, Shanghai 200030, Peoples R China
[3] Shanghai Childrens Med Ctr, Shanghai, Peoples R China
[4] Shanghai Child Hlth Care Inst, Shanghai, Peoples R China
来源：
PLOS ONE | 2012年 / 7卷 / 05期
基金：
美国国家科学基金会;
关键词：
CONNEXIN-26; MUTATIONS; HIGH PREVALENCE; CHILDREN; DEAFNESS; INTERVENTION; IDENTIFY; LANGUAGE;
D O I：
10.1371/journal.pone.0036621
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
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 = 1.4x10(-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.
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页数：4
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