Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.
| Autor: | Fishman GA; Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago College of Medicine 60612, USA., Stone EM, Alexander KR, Gilbert LD, Derlacki DJ, Butler NS |
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| Jazyk: | angličtina |
| Zdroj: | Ophthalmology [Ophthalmology] 1997 Feb; Vol. 104 (2), pp. 299-306. |
| DOI: | 10.1016/s0161-6420(97)30320-0 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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