Solaguren-Beascoa, M;
Bujakowska, KM;
Mejecase, C;
Emmenegger, L;
Orhan, E;
Neuille, M;
Mohand-Said, S;
... Zeitz, C; + view all
(2021)
WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Clinical Genetics
, 99
(2)
pp. 298-302.
10.1111/cge.13872.
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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.
| Type: | Article |
|---|---|
| Title: | WDR34, a candidate gene for non-syndromic rod-cone dystrophy |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/cge.13872 |
| Publisher version: | https://doi.org/10.1111/cge.13872 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions. |
| Keywords: | KIAA2026, non-syndromic rod-cone dystrophy, retinitis pigmentosa, WDR34, whole-exome sequencing |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10138455 |
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