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Article

The phenotypic spectrum of CEP250 gene variants.

Ophthalmic genetics - 1 Aug 2025

Courdier Cécile, Dhaenens Claire-Marie, Grunewald Olivier, Guerrot Anne-Marie, Audo Isabelle, Lecleire-Collet Amélie, Amstutz-Montadert Isabelle, Gad Shai, Lapeyre Gabrielle, Zanlonghi Xavier, Bonneau Dominique, Fradin Mélanie, Le Meur Guylène, Marlin Sandrine, Blanc Pierre, Roux Anne-Françoise, Meunier Isabelle, Michaud Vincent

Abstract excerpt

INTRODUCTION: Classically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in CEP250 cause atypical autosomal recessive Usher syndrome, which is associated with SNHL and photoreceptors dysfunction without vestibular signs. To date, only 19 scattered descriptions have been...

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Identifiers

PMID: 39610034
DOI: 10.1080/13816810.2024.2434045

Genes

CEP250

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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