Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.
Ophthalmology
; 104(2): 299-306, 1997 Feb.
Article
en En
| MEDLINE
| ID: mdl-9052636
PURPOSE: To evaluate the clinical and electrophysiologic findings in a family with two heterozygous sequence changes in the peripherin-retinal degeneration slow (RDS) gene. METHODS: A family study was done of a pedigree obtained by screening for rhodopsin, peripherin/RDS, or rom-1 gene mutations in probands from families with hereditary retinal diseases. The patients consisted of three affected and four unaffected members from a family with cone dystrophy. Ophthalmoscopy, visual field testing, electroretinography, and DNA analysis were performed. RESULTS: Denaturing gradient gel electrophoresis showed the presence of two different sequence changes in the RDS genes of this family. In three members with a retinal disease, the authors observed the substitution of phenylalanine for serine in codon 27 (serine-27-phenylalanine). The clinical and functional findings in these three patients were most consistent with autosomal-dominant cone dystrophy. Three other family members, unaffected with retinal disease, were found to show a substitution of serine for cysteine in codon 72 of the peripherin protein. CONCLUSION: A peripherin/RDS sequence change may produce a cone dystrophy with minimal ophthalmoscopic changes in the macula and limited peripheral degenerative changes. Caution is warranted to avoid ascribing nondisease-causing sequence polymorphisms in candidate genes as responsible for determining the development of a retinal disease phenotype.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenilalanina
/
Degeneración Retiniana
/
Serina
/
Glicoproteínas de Membrana
/
Mutación Puntual
/
Células Fotorreceptoras Retinianas Conos
/
Proteínas del Ojo
/
Proteínas de Filamentos Intermediarios
/
Proteínas del Tejido Nervioso
Límite:
Adult
/
Aged
/
Humans
/
Male
Idioma:
En
Revista:
Ophthalmology
Año:
1997
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Estados Unidos