| Literature DB >> 33124039 |
Maria Solaguren-Beascoa1,2, Kinga M Bujakowska3, Cécile Méjécase1, Lisa Emmenegger1, Elise Orhan1, Marion Neuillé1, Saddek Mohand-Saïd1,4, Christel Condroyer1, Marie-Elise Lancelot1, Christelle Michiels1, Vanessa Demontant1, Aline Antonio1, Mélanie Letexier5, Jean-Paul Saraiva5, Christine Lonjou6, Wassila Carpentier1,6, Thierry Léveillard1, Eric A Pierce3, Hélène Dollfus7,8, José-Alain Sahel1,4,9,10,11, Shomi S Bhattacharya1,12,13, Isabelle Audo1,4,12, Christina Zeitz1.
Abstract
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.Entities:
Keywords: KIAA2026; WDR34; non-syndromic rod-cone dystrophy; retinitis pigmentosa; whole-exome sequencing
Year: 2020 PMID： 33124039 PMCID： PMC8049445 DOI： 10.1111/cge.13872
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438