Sofiane Salhi, Alice Doreille, Marine Serveaux Dancer, Anna Boueilh, Pierre Filipozzi, Khalil El Karoui, Fanny Ponce, Anne-Sophie Lebre, Laure Raymond, Laurent Mesnard
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. While biallelic variants affecting IFT140 are responsible for Mainzer-Saldino syndrome (characterized by severe ciliopathy causing skeletal abnormalities, kidney disease, and cysts), monoallelic loss-of-function (LoF) variants have been recently reported as an important cause of ADPKD beyond PKD1/2 genes. Herein, we report 6 non-family-related cases of monoallelic IFT140 LoF variants, identified from 1,340 exomes sequenced for nephrological indications in our local database...
October 14, 2023: American Journal of Kidney Diseases