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

  • Cell Res. 2014 Nov;24(11):1370-3. doi: 10.1038/cr.2014.77.
Yongyi Yuan  1 ,  Jianguo Zhang  2 ,  Qing Chang  3 ,  Jin Zeng  4 ,  Feng Xin  5 ,  Jianjun Wang  3 ,  Qingyan Zhu  6 ,  Jing Wu  7 ,  Jingqiao Lu  3 ,  Weiwei Guo  5 ,  Xukun Yan  5 ,  Hui Jiang  6 ,  Binfei Zhou  3 ,  Qi Li  3 ,  Xue Gao  5 ,  Huijun Yuan  5 ,  Shiming Yang  5 ,  Dongyi Han  5 ,  Zixu Mao  8 ,  Ping Chen  9 ,  Xi Lin  3 ,  Pu Dai  10
Affiliations
  • 1. 1] Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China [2] Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
  • 2. 1] BGI-Shenzhen, Shenzhen, Guangdong 518083, China [2] T-Life Research Center, Fudan University, Shanghai 200433, China.
  • 3. Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
  • 4. Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
  • 5. Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
  • 6. BGI-Shenzhen, Shenzhen, Guangdong 518083, China.
  • 7. BGI-Tianjin, Tianjin 200000, China.
  • 8. 1] Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA [2] Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
  • 9. Department of Cell biology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
  • 10. 1] Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China [2] Department of Otolaryngology, Hainan Branch of PLA General Hospital, Sanya, Hainan 572000, China.
PMID: 24913193 DOI: 10.1038/cr.2014.77