A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

doi:10.1681/ASN.2013101126

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Article

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

Journal of the American Society of Nephrology : JASN - 1 Nov 2014

Huynh Cong Evelyne, Bizet Albane A, Boyer Olivia, Woerner Stéphanie, Gribouval Olivier, Filhol Emilie, Arrondel Christelle, Thomas Sophie, Silbermann Flora, Canaud Guillaume, Hachicha Jamil, Ben Dhia Nasr, Peraldi Marie-Noëlle, Harzallah Kais, Iftene Daouia, Daniel Laurent, Willems Marjolaine, Noel Laure-Hélène, Bole-Feysot Christine, Nitschké Patrick, Gubler Marie-Claire, Mollet Géraldine, Saunier Sophie, Antignac Corinne

Abstract excerpt

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...

Topics

Adaptor Proteins, Signal Transducing
Adolescent
Adult
Animals
Cell Line, Transformed
Child
Cilia
Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Glomerulosclerosis, Focal Segmental

Haplotypes

Homozygote

Humans

Male

Mice

Microtubule-Associated Proteins

Mutation, Missense

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 24876116
DOI: 10.1681/ASN.2013101126
PMCID: PMC4214529

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-24876116-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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