A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS.
Brandon M LaneSusan MurrayKatherine BensonAgnieszka BierzynskaMegan Chryst-StanglLiming WangGuanghong WuGianpiero L CavalleriBrendan DoyleNeil FennellyAnthony DormanShane ConlonVirginia Vega-WarnerDamian FerminPoornima VijayanMohammad Azfar QureshiShirlee ShrilMoumita BaruaFriedhelm HildebrandtMartin PollakDavid HowellMatthew G SampsonMoin A SaleemPeter J ConlonRobert SpurneyRasheed A GbadegesinPublished in: Journal of the American Society of Nephrology : JASN (2021)
These data suggest mutations in RCAN1 can cause autosomal dominant FSGS. Despite the widespread use of calcineurin inhibitors in the treatment of NS, genetic mutations in a direct regulator of calcineurin have not been implicated in the etiology of NS/FSGS before this report. The findings highlight the therapeutic potential of targeting RCAN1 regulatory molecules, such as GSK-3β, in the treatment of FSGS.