The phenotypic spectrum of <i>CEP250</i> gene variants
<i>CEP250</i> pathogenic variants are associated with post-lingual SNHL, and most often progressive photoreceptor dysfunction. The disease may begin with ocular features or hearing loss. We strongly recommend genetic analysis of classical and atypical Usher related-genes, in patients with isolated retinal dystrophy or SNHL. We also recommend ophthalmological evaluation and follow-up in patients with isolated SNHL, and conversely. The coexistence of loss- and gain-of-function effects may exist, complicating the development of gene therapy.
Authors
- Guylène Le Meur (ORCID: https://orcid.org/0000-0002-9869-1940)
- Olivier Grunewald (ORCID: https://orcid.org/0000-0002-9845-948X)
- Isabelle S. Audo (ORCID: https://orcid.org/0000-0003-0698-5309)
- Anne‐Françoise Roux (ORCID: https://orcid.org/0000-0001-5914-2335)
- Mélanie Fradin (ORCID: https://orcid.org/0000-0002-2535-2198)
- Xavier Zanlonghi (ORCID: https://orcid.org/0000-0003-4460-5346)
- Sandrine Marlin (ORCID: https://orcid.org/0000-0002-4115-9806)
- Cécile Courdier
- Isabelle Amstutz-Montadert
- A. Lecleire–Collet
- Claire‐Marie Dhaenens (ORCID: https://orcid.org/0000-0003-4719-4124)
- Pierre Blanc (ORCID: https://orcid.org/0009-0003-8965-7171)
- Dominique Bonneau (ORCID: https://orcid.org/0000-0002-6886-0969)
- Sophie Gad (ORCID: https://orcid.org/0000-0002-3158-6791)
- Vincent Michaud (ORCID: https://orcid.org/0000-0002-5788-392X)
- Anne-Marie Guerrot
- G Lapeyre
- Isabelle Meunier
Institutions
- Centre National de la Recherche Scientifique (FR)
- Université de Bordeaux (FR)
- Inserm (FR)
- Université de Montpellier (FR)
- Université de Lille (FR)
- Institut Pasteur de Lille (FR)
- Centre hospitalier national d'ophtalmologie des Quinze-Vingts (FR)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- Hôpital Charles-Nicolle (FR)
- Pathways Behavioral Services (US)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Centre Ophtalmologique d'Imagerie et de Laser (FR)
- Laboratoire National de Référence (MA)
- Centre Hospitalier Universitaire d'Angers (FR)
- Hôpital Nord (FR)
- Institute for Neurosciences of Montpellier (FR)
- Sequoia (United States) (US)
- Centre Hospitalier Universitaire de Rouen (FR)
- Centre Hospitalier Universitaire de Rennes (FR)
- Institut des Maladies Génétiques Imagine (FR)
- Lille Neurosciences & Cognition (FR)
- Maladies Rares: Génétique et Métabolisme (FR)
- Université d'Angers (FR)
- Université de Rouen Normandie (FR)
- Nantes Université (FR)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2024-11-28
- DOI
- https://doi.org/10.1080/13816810.2024.2434045
- Citations
- 3
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.70