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PMID: 8485576 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Nature genetics ·Vol. 3 ·No. 3 ·1993-03-00 ·Pages 213-8

Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F

Abstract

Mutations in the RDS gene, which encodes the photoreceptor glycoprotein peripherin, have been sought in families with autosomal dominant retinal dystrophies. A cysteine deletion at codon 118/119 is associated with retinitis pigmentosa in one. Three families with similar macular dystrophy have mutations at codon 172, arginine being substituted by tryptophan in two and by glutamine in one. A stop sequence at codon 258 exists in a family with adult vitelliform macular dystrophy. These findings demonstrate that both retinitis pigmentosa and macular dystrophies are caused by mutations in RDS and that the functional significance of certain amino-acids in peripherin-RDS may be different in cones and rods.

Related Genes

RDS

MeSH Terms

Adult Amino Acid Sequence Arginine Base Sequence Cysteine DNA/genetics,isolation & purification Exons Eye Proteins/genetics Female Fluorescein Angiography Genes, Dominant Glutamine Humans Intermediate Filament Proteins Macular Degeneration/diagnosis,genetics Male Membrane Glycoproteins Molecular Sequence Data Nerve Tissue Proteins Oligodeoxyribonucleotides Pedigree Peripherins Point Mutation Polymerase Chain Reaction Retinal Degeneration/genetics Retinitis Pigmentosa/diagnosis,genetics Sequence Deletion Tryptophan

Chemicals

Eye Proteins Intermediate Filament Proteins Membrane Glycoproteins Nerve Tissue Proteins Oligodeoxyribonucleotides PRPH protein, human PRPH2 protein, human Peripherins Glutamine Tryptophan DNA Arginine Cysteine

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Wells J

Department of Clinical Ophthalmology, Moorfields Eye Hospital, London, UK.

Wroblewski J

Keen J

Inglehearn C

Jubb C

Eckstein A

Jay M

Arden G

Bhattacharya S

Fitzke F

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng0393-213

Published

1993-03-00

Pages

213-8

Language

English

Region

United States

NLM ID

9216904

Subset

Grants

Wellcome Trust · United Kingdom

Corrections

CommentIn

PMID: 8485572

External Links

PubMed source DOI: 10.1038/ng0393-213 View journal details

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Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

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