PURPOSE: To determine the frequency of pathogenic mutations in the gene encoding RPE65 in patients from India with Leber congenital amaurosis (LCA). METHODS: The coding sequence of all 14 exons and the adjacent flanking intron sequences of the RPE65 gene were directly sequenced in 60 unrelated Indian LCA patients. Bioinformatics tool was used to study the structural changes of the mutant protein. RESULTS: Three sequence variants were found; two missense and one isocoding change. Of two missense changes, one was a putative polymorphism (N321K) and the other was a novel missense, disease causing change that alters proline to leucine at codon 470 (P470L) in one LCA patient. RPE65 mutations contribute to 1.7% of LCA in our population. CONCLUSIONS: Mutations in the RPE65 gene are rare in patients with LCA and hence genes other than could be mainly responsible for causing LCA in India.
PURPOSE: To determine the frequency of pathogenic mutations in the gene encoding RPE65 in patients from India with Leber congenital amaurosis (LCA). METHODS: The coding sequence of all 14 exons and the adjacent flanking intron sequences of the RPE65 gene were directly sequenced in 60 unrelated Indian LCA patients. Bioinformatics tool was used to study the structural changes of the mutant protein. RESULTS: Three sequence variants were found; two missense and one isocoding change. Of two missense changes, one was a putative polymorphism (N321K) and the other was a novel missense, disease causing change that alters proline to leucine at codon 470 (P470L) in one LCA patient. RPE65 mutations contribute to 1.7% of LCA in our population. CONCLUSIONS: Mutations in the RPE65 gene are rare in patients with LCA and hence genes other than could be mainly responsible for causing LCA in India.