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

• 来源期刊: 细胞研究（英文版）
• 年，卷（期）: 2014,（11）
• 页码范围: 1370-1373
• 页数: 4页
• 语种: 中文
• DOI: 10.1038/cr.2014.77

摘要

Dear Editor, 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 DOORS [1].TBC1D24 mutations were recently identified as a cause of DOORS syndrome [2].To date,six families with DDOD syndrome in various ethnic populations have been reported [3].However,the molecular etiology of DDOD remains unknown.