CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation.
CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation.
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DOI：
10.1076/opge.22.3.163.2222
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发表时间：
2001-09-01
影响因子：
1.2
通讯作者：
Stone, E M
中科院分区：
文献类型：
--
作者：
Lotery, A J;Malik, A;Stone, E M
目的：报告 RP12 位点 CRB1 突变的色素性视网膜炎 (RP) 患者的新表型。患者：来自巴基斯坦两个严重色素性视网膜炎家庭的 37 名患者。方法：通过单链构象多态性分析筛选样本，然后对 CRB1 基因编码序列进行 DNA 测序。结果：两个新的表型 发现了CRB1突变。没有患者有小动脉旁视网膜色素上皮 (PPRPE) 保存的证据，而先前在所有与 CRB1 突变相关的 RP 病例中都报道过这种情况。 结论：未发现 PPRPE 的严重常染色体隐性（或单纯性）RP 患者不应仅仅因为缺乏 PPRPE 的临床特征而被排除在 CRB1 的分子分析之外。该报告说明 RP12 位点的 RP 在临床上并不统一。 PPRPE 的缺失不能排除 CRB1 作为 RP 的潜在分子解释。
PURPOSE: To report a new phenotype in retinitis pigmentosa (RP) patients with CRB1 mutations at the RP12 locus.PATIENTS: Thirty-seven patients from two Pakistani families with severe retinitis pigmentosa.METHODS: Samples were screened with single-strand conformation polymorphism analysis followed by DNA sequencing of the coding sequence of the CRB1 gene.RESULTS: Two novel CRB1 mutations were discovered. No patients had evidence of preservation of the para-arteriolar retinal pigment epithelium (PPRPE) that has been previously reported in all cases of RP associated with CRB1 mutations.CONCLUSIONS: Patients with severe autosomal recessive (or simplex) RP who lack the finding of PPRPE should not be excluded from molecular analysis of CRB1 purely because they lack the clinical feature of PPRPE. This report illustrates that RP at the RP12 locus is not clinically uniform. The absence of PPRPE cannot be used to exclude CRB1 as a potential molecular explanation for RP.