Article
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney international - 1 Nov 2023
Claus Laura R, Chen Chuan, Stallworth Jennifer, Turner Joshua L, Slaats Gisela G, Hawks Alexandra L, Mabillard Holly, Senum Sarah R, Srikanth Sujata, Flanagan-Steet Heather, Louie Raymond J, Silver Josh, Lerner-Ellis Jordan, Morel Chantal, Mighton Chloe, Sleutels Frank, van Slegtenhorst Marjon, van Ham Tjakko, Brooks Alice S, Dorresteijn Eiske M, Barakat Tahsin Stefan, Dahan Karin, Demoulin Nathalie, Goffin Eric Jean, Olinger Eric, Larsen Martin, Hertz Jens Michael, Lilien Marc R, Obeidová Lena, Seeman Tomas, Stone Hillarey K, Kerecuk Larissa, Gurgu Mihai, Yousef Yengej Fjodor A, Ammerlaan Carola M E, Rookmaaker Maarten B, Hanna Christian, Rogers R Curtis, Duran Karen, Peters Edith, Sayer John A, van Haaften Gijs, Harris Peter C, Ling Kun, Mason Jennifer M, van Eerde Albertien M, Steet Richard
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) resulting from pathogenic variants in PKD1 and PKD2 is the most common form of PKD, but other genetic causes tied to primary cilia function have been identified. Biallelic pathogenic variants in the serine/threonine kinase NEK8 cause a syndromic ciliopathy with extra-kidney manifestations. Here we identify NEK8 as a disease gene for ADPKD in 12 families....
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