De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome
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.
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The work was supported by grants from the Ministry of Science and Technology of China 2012BAI09B02 to PD,the National Natural Science Foundation of China 81230020 to PD and 81371098 to YYY,the US National Institute on Deafness and other Communication Disorders NIDCD R01DC010204,RO1 DC006483 and 4R33DC010476 to XL,the Beijing Natural Science Foundation 7132177 to YYY,and the Beijing Nova program 2009B34 to YYY
2014-12-01（万方平台首次上网日期，不代表论文的发表时间）
1370-1373
