PKD1  mutation may epistatically ameliorate nephronophthisis progression in patients with  NPHP1  deletion | Zendy

Watanabe Saki | Zendy; Ino Jun | Zendy; Fujimaru Takuya | Zendy; Taneda Sekiko | Zendy; Akihisa Taro | Zendy; Makabe Shiho | Zendy; Kataoka Hiroshi | Zendy; Mori Takayasu | Zendy; Sohara Eisei | Zendy; Uchida Shinichi | Zendy; Nitta Kosaku | Zendy; Mochizuki Toshio | Zendy

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PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion

Author(s) -

Watanabe Saki,

Ino Jun,

Fujimaru Takuya,

Taneda Sekiko,

Akihisa Taro,

Makabe Shiho,

Kataoka Hiroshi,

Mori Takayasu,

Sohara Eisei,

Uchida Shinichi,

Nitta Kosaku,

Mochizuki Toshio

Publication year - 2019

Publication title -

clinical case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.21

H-Index - 9

ISSN - 2050-0904

DOI - 10.1002/ccr3.1947

Subject(s) - nephronophthisis , epistasis , pkd1 , mutation , genetics , gene , medicine , biology , phenotype , kidney , polycystic kidney disease

Key Clinical Message We report a patient with adult‐onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of NPHP1 and a heterozygous PKD1 mutation. We suggest that the PKD1 mutation may have epistatically ameliorated NPHP disease progression and that the screening of larger cohorts for similar possible epistatic effects is needed.

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