ena-DATASET-MCGILL-20-10-2014-17:56:29:362-499 - samples

In this work, using exome sequencing, we identified biallelic PNLPA6 mutations in patients with childhood blindness due to severe photoreceptor death and clinical features of Leber congenital amaurosis (LCA) and, interestingly, also of the rare Oliver McFarlane SyndromeEGA dataset EGAD00001001042本研究采用外显子组测序（exome sequencing）技术，在因严重光感受器细胞死亡引发儿童失明、且兼具莱伯先天性黑蒙（Leber congenital amaurosis，LCA）临床特征的患者中，鉴定出双等位PNLPA6基因突变；值得注意的是，这类患者同时还表现出罕见的奥利弗·麦克法兰综合征（Oliver McFarlane Syndrome）表型，相关数据来自EGA数据集EGAD00001001042。