GENETIC ANALYSIS AND DETECTION OF CYP1B1 AND LTBP2 MUTATIONS IN INDIAN FAMILIES WITH PRIMARY CONGENITAL GLAUCOMA
The article presents the results of a genetic study of eight families with primary congenital glaucoma (PCG), observed in the Aravind Eye Hospital of India. Four missense mutations (R469W, G466V, P400S and R369H) in exon 3 of the CYP1B1 gene were identified in 5 PCG families and a premature nonsense mutation (W807X) in LTBP2 segregating with PCG was found in three PCG families. Moreover, by using candidate gene analysis and Sanger sequencing, four CYP1B1 mutations and one LTBP2 mutation were identified in eight PCG families. All these mutations were not found in the control group (200 participants without PCG) that emphasizing their pathogenicity.