Evidence map›Paper›PMID 24876116›Full record

ArticleJournal of the American Society of Nephrology : JASN2014

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

Evelyne Huynh Cong, Albane A Bizet, Olivia Boyer, Stéphanie Woerner, Olivier Gribouval, Emilie Filhol, Christelle Arrondel, Sophie Thomas, Flora Silbermann, Guillaume Canaud and 14 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of the American Society of Nephrology : JASN, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.

0numbers the graph read from it
0cells of the map it votes in
64citing papers in PubMed
8.4field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

64 citing papers in PubMed, 121 citations in OpenAlex.

  1. Review
  2. Article
  3. Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.Clinical journal of the American Society of Nephrology : CJASN · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.Cell communication and signaling : CCS · 2025
    Review
  8. Review
  9. Review
  10. Intraflagellar Transport (IFT) and Sperm Formation.Advances in experimental medicine and biology · 2025
    Review
  11. Article
  12. Review
  13. Review
  14. Article
  15. Review
  16. Article
  17. Article
  18. Review
  19. Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2022
    Article
  20. Article

4 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

24 authors at 11 institutions in 3 countries.

Evelyne Huynh CongINSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France;
Albane A BizetINSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France;
Olivia BoyerINSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Assistance Publique-Hôpitaux de Paris, Department of Pediatric Nephrology, Necker Hospital, Paris, France;
Stéphanie WoernerINSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France;
Olivier GribouvalINSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France;
Emilie FilholINSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France;
Christelle ArrondelINSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France;
Sophie ThomasParis Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris, France;
Flora SilbermannINSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France;
Guillaume CanaudAssistance Publique-Hôpitaux de Paris, Department of Nephrology and Transplantation and Intensive Care Unit, Necker Hospital, Paris, France;
Jamil HachichaDepartment of Nephrology, University of Sfax, Hedi Chaker Hospital, Sfax, Tunisia;
Nasr Ben DhiaDepartment of Nephrology, Faculty of Medicine, Monastir, Tunisia;
Marie-Noëlle PeraldiINSERM U940, Paris Diderot University and Nephrology Unit, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France;
Kais HarzallahFaculty of Medicine, Military Hospital of Tunis, Tunis, Tunisia;
Daouia IfteneDepartment of Nephrology-Dialysis, Army Central Hospital, Kouba, Alger, Algeria;
Laurent DanielAssistance Publique-Hôpitaux de Marseille, Department of Pathology, la Timone Hospital, Marseille, France;
Marjolaine WillemsINSERM U844, Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier, France;
Laure-Hélène NoelAssistance Publique-Hôpitaux de Paris, Department of Nephrology and Transplantation and Intensive Care Unit, Necker Hospital, Paris, France;
Christine Bole-FeysotParis Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Imagine Institute, Genomic Core Facility, Paris, France;
Patrick NitschkéParis-Descartes Sorbonne Paris-Cité University, Bioinformatics Core Facility, Paris, France.
Marie-Claire GublerINSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France;
Géraldine MolletINSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France;
Sophie SaunierINSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France;
Corinne AntignacINSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Assistance Publique-Hôpitaux de Paris, Department of Genetics, Necker Hospital, Paris, France; corinne.antignac@inserm.fr.
Délégation Paris 5 · FRInserm · FRUniversité Paris Cité · FRAssistance Publique – Hôpitaux de Paris · FRInstitut des Maladies Génétiques Imagine · FRSorbonne Paris Cité · FRAssistance Publique Hôpitaux de Marseille · FRÉcole Normale Supérieure de Kouba · DZMilitary Hospital of Tunis · TNUniversity of Monastir · TNUniversity of Sfax · TN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 mutation. We demonstrated that the TTC21B gene product IFT139, an intraflagellar transport-A component, mainly localizes at the base of the primary cilium in developing podocytes from human fetal tissue and in undifferentiated cultured podocytes. In contrast, in nonciliated adult podocytes and differentiated cultured cells, IFT139 relocalized along the extended microtubule network. We further showed that knockdown of IFT139 in podocytes leads to primary cilia defects, abnormal cell migration, and cytoskeleton alterations, which can be partially rescued by p.P209L overexpression, indicating its hypomorphic effect. Our results demonstrate the involvement of a ciliary gene in a glomerular disorder and point to a critical function of IFT139 in podocytes. Altogether, these data suggest that this homozygous TTC21B p.P209L mutation leads to a novel hereditary kidney disorder with both glomerular and tubulointerstitial damages.

Indexed as

Adaptor Proteins, Signal TransducingAdolescentAdultAnimalsCell Line, TransformedChildCiliaFamily HealthFemaleGlomerulosclerosis, Focal SegmentalHaplotypesHomozygoteHumansMaleMiceMicrotubule-Associated ProteinsAdaptor Proteins, Signal TransducingMicrotubule-Associated ProteinsTTC21B protein, humanfocal segmental glomerulosclerosisgenetic renal diseasenephronophthisispodocyte

Identifiers

PMID24876116
PMCPMC4214529
OpenAlexW2163277569

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.