<scp> <i>WDR34</i> </scp> , a candidate gene for non‐syndromic rod‐cone dystrophy
Maria Solaguren‐Beascoa, Kinga M. Bujakowska, Cécile Méjécase, Lisa Emmenegger, Elise Orhan, Marion Neuillé, Saddek Mohand‐Saïd, Christel Condroyer, Marie‐Elise Lancelot, Christelle Michiels, Vanessa Démontant, Aline Antonio, Mélanie Letexier, Jean‐Paul Saraiva, Christine Lonjou, Wassila Carpentier, Thierry Léveillard, Eric A. Pierce, Hélène Dollfus, José‐Alain Sahel, Shomi S. Bhattacharya, Isabelle Audo, Christina Zeitz
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.