Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.

Barny, Iris; Perrault, Isabelle; Rio, Marlène; Dollfus, Hélène; Defoort-Dhellemmes, Sabine; Kaplan, Josseline; Rozet, Jean-Michel; Gerard, Xavier

Barny, Iris; Perrault, Isabelle; Rio, Marlène; Dollfus, Hélène; Defoort-Dhellemmes, Sabine; Kaplan, Josseline; Rozet, Jean-Michel; Gerard, Xavier.

Afiliación

Barny I; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, France.
Perrault I; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, France.
Rio M; Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Dollfus H; Centre des Affections Rares en Génétique Ophtalmologique CARGO, CHRU Strasbourg, INSERM1112, Université de Strasbourg, Strasbourg, France.
Defoort-Dhellemmes S; Service d'exploration de la Vision et Neuro-ophtalmologie, Pôle d'Imagerie et Explorations Fonctionnelles, CHRU de Lille, Lille, France.
Kaplan J; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, France.
Rozet JM; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, France. jean-michel.rozet@inserm.fr.
Gerard X; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, France. xavier.gerard@inserm.fr.

Adv Exp Med Biol ; 1185: 189-195, 2019.

Article en En | MEDLINE | ID: mdl-31884610

Asunto(s)

Antígenos de Neoplasias/genética; Proteínas de Ciclo Celular/genética; Codón sin Sentido; Proteínas del Citoesqueleto/genética; Exones; Empalme del ARN; Enfermedades de la Retina/genética; Humanos; Mutación; Hermanos

Palabras clave

Basal exon skipping; CEP290; Early-onset severe retinal dystrophy; Hypomorphic variant; Leber congenital amaurosis; Mild retinal dystrophy; Splicing modulation; Spontaneous exon skipping

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Empalme del ARN / Exones / Codón sin Sentido / Proteínas de Ciclo Celular / Proteínas del Citoesqueleto / Antígenos de Neoplasias Tipo de estudio: Risk_factors_studies Idioma: En Revista: Adv Exp Med Biol Año: 2019 Tipo del documento: Article

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