Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs*63) mutations in the ALMS1 gene. Although ALMS1 gene mutations are associated with Alstrom syndrome (AS), the current patients did not exhibit typical syndromic features of AS. These data suggest that ALMS1 should be included in the candidate gene panel for LCA to improve diagnostic efficiency.

中文翻译：

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全外显子组测序在印度莱伯先天性黑蒙患者中发现了两种新的 ALMS1 突变

莱伯先天性黑蒙（LCA）是一种严重的常染色体隐性遗传的视网膜退行性疾病。目前的研究描述了两名无关印度 LCA 患者的外显子组测序结果，这些患者在 ALMS1 基因中携带新的无意义 p.(Glu636*) 和移码 p.(Pro2281Leufs*63)突变。尽管ALMS1基因突变与 Alstrom 综合征 (AS) 相关，但目前的患者并未表现出典型的 AS 综合征特征。这些数据表明ALMS1应该包含在 LCA 的候选基因组中以提高诊断效率。