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WDR34 , a candidate gene for non‐syndromic rod‐cone dystrophy
Author(s) -
SolagurenBeascoa Maria,
Bujakowska Kinga M.,
Méjécase Cécile,
Emmenegger Lisa,
Orhan Elise,
Neuillé Marion,
MohandSaïd Saddek,
Condroyer Christel,
Lancelot MarieElise,
Michiels Christelle,
Demontant Vanessa,
Antonio Aline,
Letexier Mélanie,
Saraiva JeanPaul,
Lonjou Christine,
Carpentier Wassila,
Léveillard Thierry,
Pierce Eric A.,
Dollfus Hélène,
Sahel JoséAlain,
Bhattacharya Shomi S.,
Audo Isabelle,
Zeitz Christina
Publication year - 2021
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13872
Subject(s) - retinitis pigmentosa , ciliopathy , dystrophy , disease gene identification , genetics , exome sequencing , mutation , retinal degeneration , biology , gene , consanguinity , medicine , phenotype
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.