Table of Contents

HK J Paediatr (New Series)
Vol 23. No. 1, 2018

HK J Paediatr (New Series) 2018;23:37-40

Case Report

A Chinese Family with Dominant Deafness-onychodystrophy Syndrome

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.

Keyword : Dominant deafness-onychodystrophy syndrome; Hearing loss; Mutation


Abstract in Chinese

 
 

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