Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families

PURPOSE: Two consanguineous Pakistani families with autosomal recessive primary congenital glaucoma were recruited to identify the disease locus. METHODS: Ophthalmic examinations including slit lamp biomicroscopy and applanation tonometry were employed to classify the phenotype. Blood samples were collected and genomic DNA was extracted. A genome wide scan was performed on both families with 382 polymorphic microsatellite markers. Two point LOD scores were calculated, and haplotypes were constructed to define the disease interval. RESULTS: Clinical records and ophthalmic examinations suggest that affected individuals in families PKGL005 and PKGL025 have primary congenital glaucoma. Maximum two-point LOD scores of 5.88 with D14S61 at θ=0 and 6.19 with D14S43 at θ=0 were obtained for families PKGL005 and PKGL025, respectively. Haplotype analysis defined the disease locus as spanning a 6.56 cM (~4.2 Mb) genetic interval flanked by D14S289 proximally and D14S85 distally. CONCLUSIONS: Linkage analysis localizes autosomal recessive primary congenital glaucoma to chromosome 14q24.2–24.3 in consanguineous Pakistani families.