Table 1. Summary of mutations in PITX2 gene detected in families with Axenfeld Rieger syndrome

Shown are four novel mutations: the missense mutation 742C>G identified in patients AII1, AII2 (family A) that replaces a phenylalanine by a leucine, the mutation 753G>T identified in patient BII-1 (family B), and the mutation 942 C>A identified in patients CI1, CII1, CIII1 (family C) that result both in a premature stop codon, and a insertion 1251 Ins (CGA CTC CT) identified in patients DI1 and DII1 (family D).