【摘 要】
：
Dominant deafness-enychodystrophy syndrome (DDOD,MIM 124480) is a type of ectodermal cysplasia characterized mainly by congenital deafness,absent nails and/or toes with variable presence of brachydact
【机 构】
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Department of Otolaryngology,Chinese PLA General Hospital,Beijing,100853,People's Republic of China
【出 处】
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The 2nd International Rare Diseases Research Consortium Conf
论文部分内容阅读
Dominant deafness-enychodystrophy syndrome (DDOD,MIM 124480) is a type of ectodermal cysplasia characterized mainly by congenital deafness,absent nails and/or toes with variable presence of brachydactyly,hypoplastic distal phalanges,and bulbous distal phalanges.Using the whole-exome sequencing approach,we identified a de novo mutation (c.1516 C＞T [p.Arg506X]) in ATP6V1B2 as the cause of DDOD syndrome in three independently identified individuals.Molecular epidemiology analysis showed that the ATP6V1B2 p.Arg506X mutation was not present in 1053 ethnically matched normal hearing controls.ATP6V1B2 encodes a component of the vacuolar ATPase (V-ATPase,also known as H+-ATPase),a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles.
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