PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion.
Saki WatanabeJun InoTakuya FujimaruSekiko TanedaTaro AkihisaShiho MakabeHiroshi KataokaTakayasu MoriEisei SoharaShinichi UchidaKosaku NittaToshio MochizukiPublished in: Clinical case reports (2019)
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.