POSTER NO: 314

A novel mutation in the AIPL1 gene associated with Leber congenital amaurosis in a Pakistani family

S. Khaliq, A. Hameed, A. Abid, M. Ismail, K. Anwar, S.Q. Mehdi
Biomedical and Genetic Engineering Division, Dr. A.Q. Khan Research Laboratories, P.O. Box 2891, Islamabad 44000, Pakistan

Leber congenital amaurosis is the designation for a genetically heterogeneous and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Individuals affected with LCA are diagnosed with severely impaired vision or blindness at birth or in the first few months of life. In this study a Pakistani family with 6 affected members was ascertained, in which LCA phenotype segregated as an autosomal recessive trait. Linkage analysis of this family mapped the disease locus on chromosome 17p 13.1. The region harbors two genes, GUCY2D and AIPL1 that are reported to be associated with LCA families of different geographical and ethnic origins. Screening of GUCY2D excluded this gene to be associated with disease phenotype of this family. Mutation screening of AIPL1 gene showed a novel homozygous C to A transversion in exon 2 at nucleotide 116 in all patients. This mutation alters the codon 39 for threonine to asparagine. This novel mutation has not been reported previously and is probably the cause of LCA in this family.