title: Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India. gmamatha5@gmail.com
authors.forename: Gandra
authors.initials: G
authors.lastname: Mamatha
authors.forename: Sundaramurthy
authors.initials: S
authors.lastname: Srilekha
authors.forename: Swaminathan
authors.initials: S
authors.lastname: Meenakshi
authors.forename: Govindasamy
authors.initials: G
authors.lastname: Kumaramanickavel
mesh_terms: D000595:Amino Acid Sequence; D001766:Blindness / Q000151:congenital*; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics*; D019295:Computational Biology; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011487:Protein Conformation; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
chemical_list: D002352:Carrier Proteins; D005136:Eye Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase