Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1 | Zendy

Gavin Arno | Zendy; Sarah Hull | Zendy; Keren Carss | Zendy; Arundhati Dev-Borman | Zendy; Christina Chakarova | Zendy; Kinga M. Bujakowska | Zendy; L. Ingeborgh van den Born | Zendy; Anthony G. Robson | Zendy; Graham E. Holder | Zendy; Michel Michaelides | Zendy; Frans P.M. Cremers | Zendy; Eric A. Pierce | Zendy; F. Lucy Raymond | Zendy; Anthony T. Moore | Zendy; Andrew R. Webster | Zendy

Open Access

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1

Author(s) -

Gavin Arno,

Sarah Hull,

Keren Carss,

Arundhati Dev-Borman,

Christina Chakarova,

Kinga M. Bujakowska,

L. Ingeborgh van den Born,

Anthony G. Robson,

Graham E. Holder,

Michel Michaelides,

Frans P.M. Cremers,

Eric A. Pierce,

F. Lucy Raymond,

Anthony T. Moore,

Andrew R. Webster

Publication year - 2016

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.16-19687

Subject(s) - genetics , allele , mutation , biology , gene

Mutation of RGR, encoding retinal G-protein coupled receptor was originally reported in association with retinal dystrophy in 1999. A single convincing recessive variant segregated perfectly in one family of five affected and two unaffected siblings. At least one further individual, homozygous for the same variant has since been reported. The aim of this report was to reevaluate the findings in consideration of data from a whole genome sequencing (WGS) study of a large cohort of retinal dystrophy families.

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