Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy
Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy
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DOI：
10.1016/s0161-6420(97)30320-0
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发表时间：
1997-02-01
期刊：
影响因子：
13.7
通讯作者：
Butler, NS
中科院分区：
文献类型：
--
作者：
Fishman, GA;Stone, EM;Butler, NS
目的：评估一个家系的临床和电生理结果与两个杂合序列的变化在周边视网膜变性慢（RDS）gene.Methods：一个家庭的研究是通过筛选获得的家系视紫红质，周边/RDS，或rom-l基因突变的先证者遗传性视网膜疾病的家族。患者包括三个受影响的和四个未受影响的成员从一个家庭与锥营养不良。进行检眼镜检查、视野检查、视网膜电图和DNA分析。结果：变性梯度凝胶电泳显示该家系RDS基因存在两种不同的序列变化。在三名患有视网膜疾病的成员中，作者观察到密码子27中的丝氨酸被苯丙氨酸取代（丝氨酸-27-苯丙氨酸）。这三名患者的临床和功能表现与常染色体显性视锥细胞营养不良最为一致。其他三个家庭成员，未受影响的视网膜疾病，被发现显示丝氨酸取代半胱氨酸的密码子72的外周蛋白protein.Conclusion：外周蛋白/RDS序列的变化可能会产生一个锥营养不良与最小检眼镜的变化在黄斑和有限的周边退行性变化。谨慎是必要的，以避免归因于非致病性序列多态性的候选基因负责决定视网膜疾病表型的发展。
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-l 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.