突变可能通过上位效应改善缺失患者的肾单位肾痨进展。
mutation may epistatically ameliorate nephronophthisis progression in patients with deletion.
作者信息
Watanabe Saki, Ino Jun, Fujimaru Takuya, Taneda Sekiko, Akihisa Taro, Makabe Shiho, Kataoka Hiroshi, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Nitta Kosaku, Mochizuki Toshio
机构信息
Department of Medicine, Kidney Center Tokyo Women's Medical University Shinjuku-ku Japan.
Department of Medicine, Division of Nephrology Todachuo General Hospital Toda Japan.
出版信息
Clin Case Rep. 2019 Jan 9;7(2):336-339. doi: 10.1002/ccr3.1947. eCollection 2019 Feb.
We report a patient with adult-onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of and a heterozygous mutation. We suggest that the mutation may have epistatically ameliorated NPHP disease progression and that the screening of larger cohorts for similar possible epistatic effects is needed.
我们报告了一名成年发病的肾单位肾痨（NPHP）患者，该患者被鉴定为存在纯合子全基因缺失以及杂合子突变。我们认为该突变可能通过上位效应改善了NPHP的疾病进展，并且需要对更大的队列进行筛查以寻找类似的可能上位效应。
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