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.
Highlights
Hearing is critical for normal development and acquisition of speech
The prevalence of the p.V37I exclusive genotype of GJB2 was 21.4% (3/14) in postnatal permanent childhood hearing impairment (PCHI) group 1 who passed newborn hearing screening (NHS) at birth, and 19.4% (6/31) in postnatal PCHI group 2 who passed the pediatric hearing tests during their kindergarten enrollment physical examination, both significantly higher than the prevalence of 0.4% (6/1516) in the ethnically matched control newborns (P = 9.061025, OR = 68.63, 95% CI 5.20–309.93 for group1; P = 9.861028, OR = 60.40, 95% CI 18.22–200.27 for group 2; P = 1.4610210, OR = 62.92, 95% CI 21.27–186.12 for the combined postnatal PCHI group, Table 2)
These results showed that the p.V37I exclusive genotype of GJB2 is strongly associated with postnatal PCHI and is present in a substantial percentage (20.0%, 9/45) of postnatal PCHI cases in Chinese
Summary
Hearing is critical for normal development and acquisition of speech. Early detection with intervention and habilitation for permanent childhood hearing impairment (PCHI) leads to significantly better speech, language and cognitive development [1,2,3]. A series of risk factors, featuring the clinical, family or medical history, has been recommended by the Joint Committee on Infant Hearing to prompt continued audiological monitoring of those at higher risk of postnatal PCHI [7] These risk factors, were not present in a significant percentage (52%–67.5%) of children with postnatal PCHI in several previous reports [5,8]. Genetic testing in newborns has been proposed as a potentially effective way to detect postnatal PCHI that are either not present at birth or associated with subclinical hearing loss [6]. This practice, is hindered by limited knowledge of common genetic variants associated with postnatal PCHI. No GJB2 mutation, has been reported associated with postnatal PCHI
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