Ontology highlight
ABSTRACT:
SUBMITTER: Huynh Cong E
PROVIDER: S-EPMC4214529 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Huynh Cong Evelyne E Bizet Albane A AA Boyer Olivia O Woerner Stéphanie S Gribouval Olivier O Filhol Emilie E Arrondel Christelle C Thomas Sophie S Silbermann Flora F Canaud Guillaume G Hachicha Jamil J Ben Dhia Nasr N Peraldi Marie-Noëlle MN Harzallah Kais K Iftene Daouia D Daniel Laurent L Willems Marjolaine M Noel Laure-Hélène LH Bole-Feysot Christine C Nitschké Patrick P Gubler Marie-Claire MC Mollet Géraldine G Saunier Sophie S Antignac Corinne C
Journal of the American Society of Nephrology : JASN 20140529 11
Several genes, mainly involved in podocyte cytoskeleton regulation, have been implicated in familial forms of primary FSGS. We identified a homozygous missense mutation (p.P209L) in the TTC21B gene in seven families with FSGS. Mutations in this ciliary gene were previously reported to cause nephronophthisis, a chronic tubulointerstitial nephropathy. Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mut ...[more]