LLYang, XS Yin, JB Yang, XW Huang

Abstract

Dominant deafness-onychodystrophy syndrome (DDOD syndrome; MIM 124480) is a rare disorder characterised with congenital sensorineural hearing loss accompanied by dystrophic or absent nails. We herein report a family with two members with congenital sensorineural hearing loss and dystrophic or absent nails via autosomal dominant transmission. Genetic analysis showed an ATP6V1B2 mutation (c.1516C>T (p.Arg506X)) in the two patients. The phenotypes described in our family were similar with those reported families. Our findings supported the evidence that ATP6V1B2 gene mutation may cause DDOD syndrome; and this family's conditions were within the spectrum of DDOD, which will provide valuable hints on diagnosis of this disease.