HK J Paediatr (New Series)
Vol 23. No. 1,
2018
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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 Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China LL Yang (楊莉麗) MS JB Yang (楊建濱) MD XW Huang (黃新文) MD School of Health in Social Science, The University of Edinburg, United Kingdom XS Yin (殷曉珊) BS Correspondence to: Dr XW Huang Email: 6305022@zju.edu.cn Received July 6, 2016
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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