Characterization and Prevalence of<i>PITX2</i>Microdeletions and Mutations in Axenfeld-Rieger Malformations

Abstract

Point mutations and gross deletions of PITX2 appear to produce an equivalent haploinsufficiency phenotype. Quantitative PCR is an efficient means of detecting causative PITX2 deletions in patients with AR and may increase the detection rate at this locus.