Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

Brian E Nichols; Val C Sheffield; Kimberlie Vandenburgh; Arlene V Drack; Alan E Kimura; Edwin M Stone

doi:10.1038/ng0393-202

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Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

Journal article

Peer reviewed

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

Brian E Nichols, Val C Sheffield, Kimberlie Vandenburgh, Arlene V Drack, Alan E Kimura and Edwin M Stone

Nature genetics, Vol.3(3), pp.202-207

03/1993

DOI: 10.1038/ng0393-202

PMID: 8485574

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Abstract

Butterfly-shaped pigment dystrophy of the fovea is an autosomal dominant eye disease characterized by a bilateral accumulation of yellowish or pigmented material at the level of the retinal pigment epithelium. It shares some clinical and histopathologic features with age related macular degeneration which is the most common cause of legal blindness in older patients. We screened affected patients from a three generation family with butterfly dystrophy for mutations in candidate genes. A base substitution was identified in the peripherin (RDS) gene and DNA sequencing revealed a G to A transition in codon 167 that substitutes aspartic acid for a highly conserved glycine. The mutation segregates with the disease phenotype (Zmax = 4, theta = 0) strongly suggesting that it causes the macular disease in this family.

Retinal Degeneration - diagnosis

Exons

Humans

Middle Aged

Molecular Sequence Data

Male

Genes, Dominant

Mice, Mutant Strains

Base Sequence

Intermediate Filament Proteins - genetics

Adult

Female

Codon - genetics

Eye Proteins - genetics

Membrane Glycoproteins

Neuropeptides - genetics

Fluorescein Angiography

Genetic Linkage

Amino Acid Sequence

Peripherins

Oligodeoxyribonucleotides

Protein Structure, Secondary

Retinal Degeneration - genetics

Nerve Tissue Proteins

DNA - genetics

DNA - isolation & purification

Point Mutation

Animals

Pedigree

Aged

Mice

Intermediate Filament Proteins - chemistry

Details

Title: Subtitle: Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene
Creators: Brian E Nichols - Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City 52242
Val C Sheffield
Kimberlie Vandenburgh
Arlene V Drack
Alan E Kimura
Edwin M Stone
Resource Type: Journal article
Publication Details: Nature genetics, Vol.3(3), pp.202-207
DOI: 10.1038/ng0393-202
PMID: 8485574
NLM abbreviation: Nat Genet
ISSN: 1061-4036
eISSN: 1546-1718
Publisher: United States
Language: English
Date published: 03/1993
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980073502771

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213 Times Cited - Web of Science