Porto Fernanda B O, Jones Evan M, Branch Justin, Soens Zachry T, Maia Igor Mendes, Sena Isadora F G, Sampaio Shirley A M, Simões Renata T, Chen Rui
INRET Clínica e Centro de Pesquisa, Belo Horizonte, 30150290 Minas Gerais, Brazil.
Centro Oftalmológico de Minas Gerais, COMG, Belo Horizonte, 30150290 Minas Gerais, Brazil.
Genes (Basel). 2017 Nov 29;8(12):355. doi: 10.3390/genes8120355.
Leber congenital amaurosis (LCA) is a severe disease that leads to complete blindness in children, typically before the first year of life. Due to the clinical and genetic heterogeneity among LCA and other retinal diseases, providing patients with a molecular diagnosis is essential to assigning an accurate clinical diagnosis. Using our gene panel that targets 300 genes that are known to cause retinal disease, including 24 genes reported to cause LCA, we sequenced 43 unrelated probands with Brazilian ancestry. We identified 42 unique variants and were able to assign a molecular diagnosis to 30/43 (70%) Brazilian patients. Among these, 30 patients were initially diagnosed with LCA or a form of early-onset retinal dystrophy, 17 patients harbored mutations in LCA-associated genes, while 13 patients had mutations in genes that were reported to cause other diseases involving the retina.
莱伯先天性黑蒙（LCA）是一种严重的疾病，通常会导致儿童在一岁前完全失明。由于LCA与其他视网膜疾病在临床和基因上存在异质性，为患者提供分子诊断对于准确的临床诊断至关重要。我们使用针对300个已知会导致视网膜疾病的基因的基因检测板，其中包括24个据报道会导致LCA的基因，对43名具有巴西血统的无关先证者进行了测序。我们鉴定出42个独特的变异，并能够为30/43（70%）的巴西患者做出分子诊断。其中，30名患者最初被诊断为LCA或某种早发性视网膜营养不良，17名患者在LCA相关基因中携带突变，而13名患者在据报道会导致其他涉及视网膜疾病的基因中携带突变。
