A family with Axenfeld–Rieger yndrome and Peter Anomaly caued by a point mutation (Phe112er) in the FOXC1 gene

Purpoe Mutation of the forkhead trancription factor gene FOXC1 reult in anterior egment anomalie. No decription of the pectrum of defect reulting from a ingle point mutation of thi gene exit in the ophthalmology literature. We have creened all available patient with Axenfeld–Rieger gene (PITX2 and FOXC1). In thi report, we clinically characterize the pectrum of ocular and ytemic manifetation in one family reulting from a previouly reported point mutation (Phe112er) in FOXC1. Deign Obervational cae erie. Method Ten member of a multigenerational family were examined for ign of glaucoma, anterior egment abnormalitie, and ytemic feature of Axenfeld–Rieger yndrome. The examination were performed in an ophthalmology examination room or in the patient’ home. Blood wa obtained from 10 member and creened for mutation in FOXC1 uing direct DNA equencing. Reult A ingle mutation cauing a T to C change in codon 112 (Phe112er) of FOXC1 wa preent in ix member of the family. Five of thee ix patient were examined and all demontrated anterior egment anomalie. One patient had Axenfeld anomaly, one had Rieger yndrome, and one had both Axenfeld anomaly and Peter anomaly. Additionally, ome member demontrated cardiac abnormalitie, which may be econdary to their FOXC1 mutation. Concluion A wide pectrum of clinical phenotype can reult from a ingle point mutation of FOXC1. Thi report confirm that Rieger yndrome (with dental and facial abnormalitie) can be caued by a mutation in FOXC1. It i alo the firt report of Peter anomaly being caued by a FOXC1 mutation.