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首页> 外文期刊>British journal of ophthalmology >Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
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Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

机译：常染色体显性遗传性视网膜色素变性患者的新型视紫红质突变和基因型-表型相关性。

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AIM: To identify novel or rare rhodopsin gene mutations in patients with autosomal dominant retinitis pigmentosa and description of their clinical phenotype. METHODS: The complete rhodopsin gene was screened for mutations by DNA sequencing in index patients. Mutation specific assays were used for segregation analysis and screening for controls. Eight patients from five families and their relatives were diagnosed with autosomal dominant retinitis pigmentosa (adRP) by means of clinical evaluation. RESULTS: Mutation screening identified five different rhodopsin mutations including three novel mutations: Ser176Phe, Arg314fs16, and Val20Gly and two missense mutations, Pro215Leu and Thr289Pro, that were only reported once in a mutation report. Electrophysiological and psychophysical testings provide evidence of an impaired rod system with additionally affected cone system in subjects from each genotype group. Visual function tended to be less affected in subjects with the Arg314fs16 and Val20Gly mutations than in the Ser176Phe phenotype. In contrast, Pro215Leu and Thr289Pro mutations caused a remarkably severe phenotype. CONCLUSION: The ophthalmic findings support a correlation between disease expression and structural alteration: (1) extracellular/intradiscal Val20Gly and cytoplasmic Arg314fs16 mutation-mild adRP phenotype; (2) Ser176Phe mutation-"mostly type 1" disease; (3) predicted alteration of transmembrane domains TM V and TM VII induced by Pro215Leu and Thr289Pro-severe phenotype. However, variation of phenotype expression in identical genotypes may still be a typical feature of RHO mutations.
机译：目的：确定常染色体显性遗传性视网膜炎色素沉着患者的新的或罕见的视紫红质基因突变，并描述其临床表型。方法：通过DNA测序对索引患者的视紫红质基因进行完整的突变筛选。突变特异性测定用于分离分析和对照筛选。通过临床评估，来自五个家庭的8名患者及其亲属被诊断为常染色体显性遗传性视网膜色素变性（adRP）。结果：突变筛选确定了五个不同的视紫红质突变，包括三个新突变：Ser176Phe，Arg314fs16和Val20Gly，以及两个错义突变Pro215Leu和Thr289Pro，仅在突变报告中报告过一次。电生理和心理物理测试为每个基因型组的受试者提供了杆系统受损以及锥体系统进一步受影响的证据。与Ser176Phe表型相比，在具有Arg314fs16和Val20Gly突变的受试者中，视觉功能受到的影响较小。相反，Pro215Leu和Thr289Pro突变引起了非常严重的表型。结论：眼科检查结果支持疾病表达与结构改变之间的相关性：（1）细胞外/细胞内Val20Gly和细胞质Arg314fs16突变-轻度adRP表型; （2）Ser176Phe突变-“主要是1型”疾病; （3）预测由Pro215Leu和Thr289Pro-严重表型诱导的跨膜结构域TMV和TMVII的改变。但是，相同基因型中表型表达的变化可能仍然是RHO突变的典型特征。

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