A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12

Abstract

The common form of adult-onset primary open-angle glaucoma is inherited as a complex trait, whereas the rarer early-onset juvenile open-angle glaucoma (JOAG) exhibits autosomal dominant inheritance. Of all cases of JOAG, approximately 10% to 20% are caused by mutations in the myocilin gene. The authors have identified 25 pedigrees that are affected with typical JOAG and that demonstrate autosomal dominant inheritance. They sequenced the myocilin gene in probands from each family and found mutations in 8% of that population. To identify novel genes responsible for JOAG, they used families that did not have myocilin mutinous for a genomewide screen. Markers located on chromosomes 9q22 and 20p12 showed evidence for linkage, identifying two novel loci for early-onset open-angle glaucoma.—Hans E. Grossniklaus The common form of adult-onset primary open-angle glaucoma is inherited as a complex trait, whereas the rarer early-onset juvenile open-angle glaucoma (JOAG) exhibits autosomal dominant inheritance. Of all cases of JOAG, approximately 10% to 20% are caused by mutations in the myocilin gene. The authors have identified 25 pedigrees that are affected with typical JOAG and that demonstrate autosomal dominant inheritance. They sequenced the myocilin gene in probands from each family and found mutations in 8% of that population. To identify novel genes responsible for JOAG, they used families that did not have myocilin mutinous for a genomewide screen. Markers located on chromosomes 9q22 and 20p12 showed evidence for linkage, identifying two novel loci for early-onset open-angle glaucoma.—Hans E. Grossniklaus