Young onset distal tubular acidosis is a rare genetic disorder that can lead, if untreated, to many complications. Mutations in few genes account for almost half of the cases, whereas the molecular mechanisms accounting for the remaining cases are still unknown. The present study reports the use of whole-exome sequencing to identify new dRTA-causing genes and demonstrates that inactivating mutations in the ATP6V1C2 gene impair renal proton pump function.

中文翻译：

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ATP6V1C2作为远端肾小管酸中毒的新候选基因的鉴定。

年轻人发病的远端肾小管酸中毒是一种罕见的遗传疾病，如果不加以治疗，可能导致许多并发症。少数基因的突变占病例的将近一半，而其余病例的分子机制仍然未知。本研究报告了使用全外显子组测序来鉴定新的引起dRTA的基因，并证明ATP6V1C2基因的失活突变会损害肾质子泵功能。