Novel PITX2 mutations identified in Axenfeld–Rieger syndrome and the pattern of PITX2‐related tooth agenesis

Objectives To investigate the mutations in patients with Axenfeld–Rieger syndrome (ARS) and the pattern of PITX2 ‐related tooth agenesis. Methods Whole‐exome sequencing (WES) and copy number variation (CNV) array were used to screen the mutations in four ARS probands. After Sanger sequencing and quantitative polymerase chain reaction (qPCR) validation, secondary structure prediction and dual‐luciferase assay were employed to investigate the...