PDF(Pubmed)
Abstract：
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic or syndromic with complex clinical phenotypes. Three unrelated Polish probands affected with retinitis pigmentosa coexisting with cerebellar ataxia were recruited for this study. Clinical heterogeneity and delayed appearance of typical disease symptoms significantly prolonged the patients\' diagnostic process. Therefore, many clinical and genetic tests have been performed in the past. Here, we provide detailed clinical and genetic analysis results of the patients. Whole-exome sequencing (WES) and targeted NGS analysis allow the identification of four novel and two previously reported variants in the following genes: ABHD12, FLVCR1, and PNPLA6. The use of next-generation sequencing (NGS) methods finally allowed for confirmation of the clinical diagnosis. Ultra-rare diseases such as PHARC, PCARP, and Oliver-McFarlane syndromes were diagnosed in patients, respectively. Our findings confirmed the importance of the application of next-generation sequencing methods, especially in ultra-rare genetic disorders with overlapping features.
摘要：
色素性视网膜炎(RP)是一种由光感受器丧失和视网膜色素上皮萎缩引起的遗传性视网膜营养不良,导致严重的视力障碍或失明。RP可分为非综合征型或具有复杂临床表型的综合征型。本研究招募了三个与色素性视网膜炎并伴有小脑共济失调的无关波兰先证者。临床异质性和典型疾病症状的延迟出现显着延长了患者的诊断过程。因此,过去已经进行了许多临床和基因测试。这里,我们提供患者的详细临床和基因分析结果。全外显子组测序（WES）和靶向NGS分析允许鉴定以下基因中的四个新变体和两个先前报道的变体：ABHD12，FLVCR1和PNPLA6。下一代测序(NGS)方法的使用最终允许临床诊断的确认。超罕见疾病如PHARC,PCARP,Oliver-McFarlane综合征被诊断为患者，分别。我们的发现证实了下一代测序方法应用的重要性，特别是在具有重叠特征的超罕见遗传疾病中。
