GTF2A1L frameshift variant of a primary open angle glaucoma family from Chinese Han nationality

Abstract

Primary open angle glaucoma (POAG) is a chronic, progressive optic neuropathy with a characteristic optic disc and no other eye disease or congenital abnormality. We have collected a 4-generation family of POAG from Chinese Han nationality. Gene-chip linkage localization and whole exome sequencing were performed on this family to identify pathogenic mutations. Linkage localization analysis identified a linkage peak overlapping with glaucoma candidate genes on chromosome 2, with a LOD value of 2.4, a NPL value of 4.62. Whole exome sequencing revealed frameshift variant in GTF2A1L gene on chromosome 2, which was adjacent to linkage localization. The specific frameshift mutation of GTF2A1L gene correlates with the phenotype of glaucoma in this family, which conforms to an autosomal dominant inheritance pattern.