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Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
Barny, Iris; Perrault, Isabelle; Michel, Christel; Soussan, Mickael; Goudin, Nicolas; Rio, Marlène; Thomas, Sophie; Attié-Bitach, Tania; Hamel, Christian; Dollfus, Hélène; Kaplan, Josseline; Rozet, Jean-Michel; Gerard, Xavier.
Affiliation
  • Barny I; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
  • Perrault I; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
  • Michel C; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
  • Soussan M; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
  • Goudin N; Cell Imaging Core Facility of the Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Imagine and Paris Descartes University, Paris, France.
  • Rio M; Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
  • Thomas S; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, France.
  • Attié-Bitach T; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, France.
  • Hamel C; Centre de Référence des Affections Sensorielles Génétiques, Institut des Neurosciences de Montpellier, CHU-Saint Eloi Montpellier, Montpellier, France.
  • Dollfus H; Centre de Référence pour les Affections Génétiques Ophtalmologiques CARGO, CHRU Strasbourg, INSERM 1112, Université de Strasbourg, Strasbourg, France.
  • Kaplan J; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
  • Rozet JM; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
  • Gerard X; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
Hum Mol Genet ; 27(15): 2689-2702, 2018 08 01.
Article in En | MEDLINE | ID: mdl-29771326
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / Antigens, Neoplasm / Neoplasm Proteins Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2018 Document type: Article Country of publication: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Diseases / Antigens, Neoplasm / Neoplasm Proteins Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2018 Document type: Article Country of publication: United kingdom