Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.

doi:10.1016/j.ajhg.2014.05.002

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Article

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.

American journal of human genetics - 5 Jun 2014

Failler Marion, Gee Heon Yung, Krug Pauline, Joo Kwangsic, Halbritter Jan, Belkacem Lilya, Filhol Emilie, Porath Jonathan D, Braun Daniela A, Schueler Markus, Frigo Amandine, Alibeu Olivier, Masson Cécile, Brochard Karine, Hurault de Ligny Bruno, Novo Robert, Pietrement Christine, Kayserili Hulya, Salomon Rémi, Gubler Marie-Claire, Otto Edgar A, Antignac Corinne, Kim Joon, Benmerah Alexandre, Hildebrandt Friedhelm, Saunier Sophie

Abstract excerpt

Ciliopathies are a group of hereditary disorders associated with defects in cilia structure and function. The distal appendages (DAPs) of centrioles are involved in the docking and anchoring of the mother centriole to the cellular membrane during ciliogenesis. The molecular composition of DAPs was recently elucidated and mutations in two genes encoding DAPs components (CEP164/NPHP15, SCLT1) have been associated...

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Identifiers

PMID: 24882706
DOI: 10.1016/j.ajhg.2014.05.002
PMCID: PMC4121475

Genes

DAP
CEP83
SCLT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.PMID 24882706Read ↗

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