Truncating Mutation in theNHSGene: Phenotypic Heterogeneity of Nance-Horan Syndrome in an Asian Indian Family

Abstract

Purpose. A four-generation family containing eight affected males who inherited X-linked developmental lens opacity and microcornea was studied. Some members in the family had mild to moderate nonocular clinical features suggestive of Nance-Horan syndrome. The purpose of the study was to map genetically the gene in the large 57-live-member Asian-Indian pedigree.