Abstract
Leber congenital amaurosis (LCA), which is characterized by loss or severe impairment of vision in the first few months of life, is the most serious inherited retinopathy. AIPL1 is one of the major genes implicated in LCA. In this study, we aimed to identify causative genes in Chinese patients with LCA. Members of three LCA pedigrees were recruited and received complete ophthalmic examinations with family historical evaluations. Then, comprehensive genetic screening was performed by using targeted next-generation sequencing (NGS) and Sanger sequencing to detect the causative genes of LCA in the families. Three mutations in the AIPL1 gene were identified: one homozygous and heterozygous mutation, c.421C>T (p.Gln141X), in family 20283; two compound heterozygous mutations, c.152A>G p.Asp51Gly and c.421C>T p.Gln141X, in family 20323; and one novel homozygous mutation, AIPL1_c.820C>G p.His274Asp, in family 20416. In conclusion, the three novel LCA-related mutations identified in this study extend the spectrum of AIPL1 mutations, and targeted NGS is an effective tool for genetic diagnosis. (Am J Transl Med 2018. 2:35-46)