PMID- 22574200
OWN - NLM
STAT- MEDLINE
DCOM- 20120910
LR  - 20211021
IS  - 1932-6203 (Electronic)
IS  - 1932-6203 (Linking)
VI  - 7
IP  - 5
DP  - 2012
TI  - The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal 
      permanent childhood hearing impairment.
PG  - e36621
LID - 10.1371/journal.pone.0036621 [doi]
LID - e36621
AB  - 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.
FAU - Li, Lei
AU  - Li L
AD  - Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai 
      Jiaotong University School of Medicine, Shanghai, China.
FAU - Lu, Jingrong
AU  - Lu J
FAU - Tao, Zheng
AU  - Tao Z
FAU - Huang, Qi
AU  - Huang Q
FAU - Chai, Yongchuan
AU  - Chai Y
FAU - Li, Xiaohua
AU  - Li X
FAU - Huang, Zhiwu
AU  - Huang Z
FAU - Li, Yun
AU  - Li Y
FAU - Xiang, Mingliang
AU  - Xiang M
FAU - Yang, Jun
AU  - Yang J
FAU - Yao, Guoyin
AU  - Yao G
FAU - Wang, Yu
AU  - Wang Y
FAU - Yang, Tao
AU  - Yang T
FAU - Wu, Hao
AU  - Wu H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120504
PL  - United States
TA  - PLoS One
JT  - PloS one
JID - 101285081
RN  - 0 (Connexins)
RN  - 0 (GJB2 protein, human)
RN  - 127120-53-0 (Connexin 26)
SB  - IM
MH  - Child
MH  - Connexin 26
MH  - Connexins/*genetics
MH  - Genetic Predisposition to Disease/*genetics
MH  - *Genotype
MH  - Hearing Loss/*genetics
MH  - Humans
MH  - Infant, Newborn
PMC - PMC3344898
COIS- Competing Interests: The authors have declared that no competing interests exist.
EDAT- 2012/05/11 06:00
MHDA- 2012/09/11 06:00
PMCR- 2012/05/04
CRDT- 2012/05/11 06:00
PHST- 2012/02/27 00:00 [received]
PHST- 2012/04/03 00:00 [accepted]
PHST- 2012/05/11 06:00 [entrez]
PHST- 2012/05/11 06:00 [pubmed]
PHST- 2012/09/11 06:00 [medline]
PHST- 2012/05/04 00:00 [pmc-release]
AID - PONE-D-12-06144 [pii]
AID - 10.1371/journal.pone.0036621 [doi]
PST - ppublish
SO  - PLoS One. 2012;7(5):e36621. doi: 10.1371/journal.pone.0036621. Epub 2012 May 4.