Article
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
American journal of human genetics - 4 Feb 2021
Weng Patricia L, Majmundar Amar J, Khan Kamal, Lim Tze Y, Shril Shirlee, Jin Gina, Musgrove John, Wang Minxian, Ahram Dina F, Aggarwal Vimla S, Bier Louise E, Heinzen Erin L, Onuchic-Whitford Ana C, Mann Nina, Buerger Florian, Schneider Ronen, Deutsch Konstantin, Kitzler Thomas M, Klämbt Verena, Kolb Amy, Mao Youying, Moufawad El Achkar Christelle, Mitrotti Adele, Martino Jeremiah, Beck Bodo B, Altmüller Janine, Benz Marcus R, Yano Shoji, Mikati Mohamad A, Gunduz Talha, Cope Heidi, Shashi Vandana, Trachtman Howard, Bodria Monica, Caridi Gianluca, Pisani Isabella, Fiaccadori Enrico, AbuMaziad Asmaa S, Martinez-Agosto Julian A, Yadin Ora, Zuckerman Jonathan, Kim Arang, John-Kroegel Ulrike, Tyndall Amanda V, Parboosingh Jillian S, Innes A Micheil, Bierzynska Agnieszka, Koziell Ania B, Muorah Mordi, Saleem Moin A, Hoefele Julia, Riedhammer Korbinian M, Gharavi Ali G, Jobanputra Vaidehi, Pierce-Hoffman Emma, Seaby Eleanor G, O'Donnell-Luria Anne, Rehm Heidi L, Mane Shrikant, D'Agati Vivette D, Pollak Martin R, Ghiggeri Gian Marco, Lifton Richard P, Goldstein David B, Davis Erica E, Hildebrandt Friedhelm, Sanna-Cherchi Simone
Abstract excerpt
Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, while the contribution of de novo variants (DNVs) to this trait is poorly understood. Using exome sequencing (ES) in a proband with FSGS/SRNS, developmental delay, and...
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