Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop)

Byron L Lam; Kimberlie Vandenburgh; Val C Sheffield; Edwin M Stone

doi:10.1016/S0002-9394(14)73815-2

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Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop)

Journal article

Peer reviewed

Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop)

Byron L Lam, Kimberlie Vandenburgh, Val C Sheffield and Edwin M Stone

American journal of ophthalmology, Vol.119(1), pp.65-71

01/1995

DOI: 10.1016/S0002-9394(14)73815-2

PMID: 7825692

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Abstract

We identified genetic mutations and characterized their associated phenotypes in patients with retinitis pigmentosa. Patients with retinitis pigmentosa were prospectively examined and screened for genetic mutations. A 46-year-old man with retinitis pigmentosa was found to have a heterozygous mutation in the peripherin/RDS gene (arginine-46-stop). He had late onset of symptoms and demarcated peripheral retinal atrophy. All five first-degree relatives including his parents had no detectable mutations or retinitis pigmentosa. Genotypic data were consistent with reported family structure. This study shows that new dominant mutations are a rare cause of isolated, or simplex, cases of retinitis pigmentosa. Identification of these mutations is helpful for genetic counseling.

Polymerase Chain Reaction

Mutation

Prospective Studies

Humans

Middle Aged

Molecular Sequence Data

Male

Arginine

Genes, Dominant

DNA - analysis

Base Sequence

Intermediate Filament Proteins - genetics

Adult

Codon - genetics

Membrane Glycoproteins

Neuropeptides - genetics

Electroretinography

Amino Acid Sequence

Peripherins

Retinal Degeneration - genetics

Retinitis Pigmentosa - genetics

Nerve Tissue Proteins

Rhodopsin - genetics

Pedigree

Retinal Degeneration - pathology

Fundus Oculi

Retinitis Pigmentosa - pathology

Details

Title: Subtitle: Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop)
Creators: Byron L Lam - Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock
Kimberlie Vandenburgh
Val C Sheffield
Edwin M Stone
Resource Type: Journal article
Publication Details: American journal of ophthalmology, Vol.119(1), pp.65-71
DOI: 10.1016/S0002-9394(14)73815-2
PMID: 7825692
NLM abbreviation: Am J Ophthalmol
ISSN: 0002-9394
eISSN: 1879-1891
Publisher: United States
Grant note: HG00457 / NHGRI NIH HHS P50HG00835 / NHGRI NIH HHS EY08426 / NEI NIH HHS
Language: English
Date published: 01/1995
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980039602771

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