A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanee family with Axenfeld–Rieger yndrome

PURPOE: To report the ocular and genetic finding of a Japanee family with Axenfeld–Rieger yndrome aociated with a novel Pro79Thr mutation in the FKHL7 gene. METHOD: Obervational cae erie. Genomic DNA of patient from a family with Axenfeld–Rieger yndrome wa extracted from leukocyte, and exon of the FKHL7 gene were amplified by polymerae chain reaction for direct equencing. REULT: Molecular genetic analyi dicloed that one Japanee family with Axenfeld–Rieger yndrome had a heterozygou C to A tranverion in the firt nucleotide at codon 79, deignated Pro79Thr mutation in the FKHL7 gene. CONCLUION: Conidering thi novel Pro79Thr mutation together with previouly reported finding, it i indicated that the clinical feature of Axenfeld–Rieger yndrome may depend on the portion of the FKHL7 gene affected by the mutation, although more cae report are needed to clarify genotype–phenotype correlation of the FKHL7 gene.