ATOH c.1030delC co-segregated over five generations in one Iraqi Jewish kindred, with progressive non-syndromic hearing loss (HL) with congenital or early childhood onset. This mutation was detected in heterozygosity in one family only with dominant inheritance. Fourteen out of eighteen hearing impaired family members were ascertained and all of them carried the variant, while this variant was absent in six hearing sibs, all of them found to be wild type.
ATOH1