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WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Solaguren-Beascoa, Maria; Bujakowska, Kinga M; Méjécase, Cécile; Emmenegger, Lisa; Orhan, Elise; Neuillé, Marion; Mohand-Saïd, Saddek; Condroyer, Christel; Lancelot, Marie-Elise; Michiels, Christelle; Demontant, Vanessa; Antonio, Aline; Letexier, Mélanie; Saraiva, Jean-Paul; Lonjou, Christine; Carpentier, Wassila; Léveillard, Thierry; Pierce, Eric A; Dollfus, Hélène; Sahel, José-Alain; Bhattacharya, Shomi S; Audo, Isabelle; Zeitz, Christina.
Afiliación
  • Solaguren-Beascoa M; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Bujakowska KM; Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.
  • Méjécase C; Department of Ophthalmology, Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, USA.
  • Emmenegger L; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Orhan E; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Neuillé M; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Mohand-Saïd S; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Condroyer C; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Lancelot ME; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DGOS, CIC 1423, Paris, France.
  • Michiels C; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Demontant V; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Antonio A; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Letexier M; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Saraiva JP; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Lonjou C; IntegraGen SA, Evry, France.
  • Carpentier W; IntegraGen SA, Evry, France.
  • Léveillard T; Plateforme Post-Génomique P3S, Hôpital Pitié Salpêtrière, Paris, France.
  • Pierce EA; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Dollfus H; Plateforme Post-Génomique P3S, Hôpital Pitié Salpêtrière, Paris, France.
  • Sahel JA; Department of Genetics, Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Bhattacharya SS; Department of Ophthalmology, Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, USA.
  • Audo I; Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Zeitz C; Laboratoire UMRS_1112, Institut de Génétique Médicale d'Alsace, Université de Strasbourg, Strasbourg, France.
Clin Genet ; 99(2): 298-302, 2021 02.
Article en En | MEDLINE | ID: mdl-33124039
Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed by cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non-syndromic RCD explaining 60% to 70% of cases, with novel gene defects possibly accounting for the unsolved cases. Homozygosity mapping and whole-exome sequencing applied to a case of autosomal recessive non-syndromic RCD from a consanguineous union identified a homozygous variant in WDR34. Mutations in WDR34 have been previously associated with severe ciliopathy syndromes possibly associated with a retinal dystrophy. This is the first report of a homozygous mutation in WDR34 associated with non-syndromic RCD.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Distrofias de Conos y Bastones Límite: Adult / Humans / Male Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Dinamarca
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Distrofias de Conos y Bastones Límite: Adult / Humans / Male Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Dinamarca