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首页> 外文期刊>American Journal of Ophthalmology: The International Journal of Ophthalmology >A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
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A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

机译：磷酸二酯酶6缺乏症的新型突变和表型。

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摘要

PURPOSE: To develop a systematic approach for the molecular diagnosis of retinitis pigmentosa (RP) and to report new genotype-phenotype correlations for phosphodiesterase 6 (PDE6)-based RP mutations. DESIGN: Clinical and molecular studies on a retrospective case series. METHODS: We screened 40 unrelated RP patients with an autosomal recessive RP microarray. Individuals with RP caused by PDE6 deficiency underwent genetic segregation and phenotype analysis. RESULTS: A disease-associated allele was identified in 32% of patients. Two probands (5%) had PDE6 mutations. The first proband was a compound heterozygote for known R102C and N216S alleles in PDE6A (MIM#180071). Pedigree analysis determined that the N216S variant was benign and direct sequencing discovered a novel, S303C allele. The second proband had a homozygous D600N mutation in the PDE6B gene (MIM#180072). Visual acuities of PDE6-deficient patients ranged from 20/40 to 20/200. Clinical studies showed unusual vitreomacular traction, cystoid macular edema, macular atrophy, and ring hyperfluorescence in PDE6-deficient patients. Such extensive vitreoretinal degeneration is not characteristic of photoreceptor-specific enzyme deficiencies. CONCLUSION: High-throughput deoxyribonucleic acid microarray chips can be used in combination with clinical imaging to precisely characterize patients with RP. Identifying the precise mutation in RP may become the standard of care as gene therapy emerges.
机译：目的：开发一种用于色素性视网膜炎（RP）分子诊断的系统方法，并报告基于磷酸二酯酶6（PDE6）的RP突变的新基因型-表型相关性。设计：回顾性病例系列的临床和分子研究。方法：我们用常染色体隐性RP芯片筛选了40例无关RP患者。由PDE6缺乏引起的RP个体进行了基因分离和表型分析。结果：在32％的患者中发现了与疾病相关的等位基因。两个先证者（5％）具有PDE6突变。第一个先证者是PDE6A（MIM＃180071）中已知的R102C和N216S等位基因的复合杂合子。谱系分析确定N216S变体是良性的，直接测序发现了一个新的S303C等位基因。第二个先证者在PDE6B基因（MIM＃180072）中具有纯合D600N突变。 PDE6缺乏症患者的视力范围为20/40至20/200。临床研究表明，PDE6缺乏症患者的玻璃体牵引异常，黄斑囊样水肿，黄斑萎缩和环过度荧光。这种广泛的玻璃体视网膜变性不是光感受器特异性酶缺乏的特征。结论：高通量脱氧核糖核酸微阵列芯片可与临床成像结合使用，以准确表征RP患者。随着基因疗法的出现，鉴定RP中的确切突变可能成为治疗的标准。

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