Open AccessPKD1 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.