investigated the nonsyndromic sensorineural hearing loss
using targeted next-generation sequencing technique in the Uyghur families, and some novel pathogenic mutations were identified in four probands including the p.L416R/p.A438T compound heterozygous mutations in TMC1, homozygous p.V1880E mutation in MYO7A, c.1238delT frame-shifting deletion in PCDH15, and c.9690+1G>A splice site mutation in MYO15A.
Connexin testing should be offered in all cases of bilateral hearing loss in children, as it accounts for about 50% of nonsyndromic sensorineural hearing loss. Obviously, if parents have significant concerns and would like genetic counseling, referral to a geneticist can be considered.
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.