The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.

PloS One
Lei LiHao Wu

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.

References

Oct 23, 1997·Human Molecular Genetics·F DenoyelleC Petit
Oct 31, 1998·Pediatrics·C Yoshinaga-ItanoA L Mehl
Mar 18, 1999·Pediatric Clinics of North America·M P Downs, C Yoshinaga-Itano
Jun 22, 1999·JAMA : the Journal of the American Medical Association·G E GreenR J Smith
Jan 14, 2000·Journal of Medical Genetics·S AbeW J Kimberling
Sep 9, 2000·JAMA : the Journal of the American Medical Association·M Males
Sep 9, 2000·JAMA : the Journal of the American Medical Association·G E GreenE S Cohn
Apr 6, 2006·Pediatrics·Viktor WeichboldKunigunde Welzl-Mueller
May 19, 2006·The New England Journal of Medicine·Cynthia C Morton, Walter E Nance
Oct 16, 2007·American Journal of Medical Genetics. Part a·Agnieszka PollakRafal Ploski
Feb 16, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Dylan K ChanKay W Chang
Jun 28, 2011·International Journal of Pediatric Otorhinolaryngology·Jingrong LüHao Wu

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Citations

May 13, 2014·International Journal of Pediatric Otorhinolaryngology·Ying ChenHao Wu
Sep 4, 2015·Clinical and Experimental Otorhinolaryngology·Shou-Xia LiGen-Dong Yao
Sep 25, 2014·American Journal of Medical Genetics. Part a·Yongchuan ChaiTao Yang
Jun 30, 2015·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Kaitian ChenHongyan Jiang
Aug 28, 2018·Bioscience Trends·Xianlei WangDongxin Liu
Jun 28, 2019·Ear and Hearing·Pey-Yu ChenChuan-Jen Hsu

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Methods Mentioned

BETA
PCR

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