Original Article Prevalence of p.V37I variant of GJB2 among Chinese infants with mild or moderate hearing loss

* Equal contributors. Received July 25, 2015; Accepted October 16, 2015; Epub November 15, 2015; Published November 30, 2015 Abstract: GJB2 accounts for more than 80% of recessive forms of hereditary hearing loss (HL); however, the correla- tion between the p.V37I variant of GJB2 and hearing phenotype is controversial. This study aimed to investigate the clinical and epidemiological characteristics of the p.V37I variant in sensorineural hearing loss in Chinese infants (0-3 months). Hearing and gene tests were conducted in 300 infants (aged 0-3 months) with sensorineural hear- ing impairment and 484 normal infants (aged 0-3 months). Among the 300 hearing-impaired infants, 16 (5.33%) exhibited homozygous p.V37I variation and 7 (2.34%) showed a compound-heterozygous p.V37I variation, whereas no homozygous p.V37I (0%) or compound-heterozygous p.V37I (0%) condition was found among the 484 normal in- fants. The hearing impairment ranged from mild to profound in all patients exhibiting the homozygous p.V37I or the compound-heterozygous p.V37I condition, although most patients (61.54%) exhibit mild or moderate HL. Our results indicated that the p.V37I variation of GJB2 mutation is mainly associated with mild or moderate hearing impairment. Therefore, otolaryngologists should also screen the p.V37I variant of GJB2 in patients with mild or moderate HL.