Volume 24, No 11, Nov 2014

ISSN: 1001-0602 
EISSN: 1748-7838 2018 
impact factor 17.848* 
(Clarivate Analytics, 2019)

Volume 24 Issue 11, November 2014: 1370-1373   |  Open Access

LETTERS TO THE EDITOR

De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome

Yongyi Yuan^1,2,*, Jianguo Zhang^3,4,*, Qing Chang^2,*, Jin Zeng⁵, Feng Xin¹, Jianjun Wang², Qingyan Zhu³, Jing Wu⁶, Jingqiao Lu², Weiwei Guo¹, Xukun Yan¹, Hui Jiang³, Binfei Zhou², Qi Li², Xue Gao¹, Huijun Yuan¹, Shiming Yang¹, Dongyi Han¹, Zixu Mao^5,7, Ping Chen⁸, Xi Lin² and Pu Dai^1,9

¹Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China
²Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA
³BGI-Shenzhen, Shenzhen, Guangdong 518083, China
⁴T-Life Research Center, Fudan University, Shanghai 200433, China
⁵Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA
⁶BGI-Tianjin, Tianjin 200000, China
⁷Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA
⁸Department of Cell biology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA
⁹Department of Otolaryngology, Hainan Branch of PLA General Hospital, Sanya, Hainan 572000, China Correspondence: Xi Lin, E-mail: xlin2@emory.edu; Pu Dai,(daipu301@vip.sina.com)

Dominant deafness-onychodystrophy syndrome (DDOD syndrome; MIM 124480) is characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Prominent differences between DDOD syndrome and DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) are the intellectual disability and seizure aspects of DOORS1. TBC1D24 mutations were recently identified as a cause of DOORS syndrome2. To date, six families with DDOD syndrome in various ethnic populations have been reported3. However, the molecular etiology of DDOD remains unknown.

10.1038/cr.2014.77

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