PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion.
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ABSTRACT:
SUBMITTER: Watanabe S
PROVIDER: S-EPMC6389502 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Publications
<i>PKD1</i> mutation may epistatically ameliorate nephronophthisis progression in patients with <i>NPHP1</i> deletion.
Watanabe Saki S Ino Jun J Fujimaru Takuya T Taneda Sekiko S Akihisa Taro T Makabe Shiho S Kataoka Hiroshi H Mori Takayasu T Sohara Eisei E Uchida Shinichi S Nitta Kosaku K Mochizuki Toshio T
Clinical case reports 20190109 2
We report a patient with adult-onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of <i>NPHP1</i> and a heterozygous <i>PKD1</i> mutation. We suggest that the <i>PKD1</i> mutation may have epistatically ameliorated NPHP disease progression and that the screening of larger cohorts for similar possible epistatic effects is needed. ...[more]
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