A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome

PURPOSE: To report the ocular and genetic findings of a Japanese family wit h Axenfeld-Rieger syndrome associated with a novel Pro79Thr mutation in the FKHL7 gene. METHODS: Observational case series. Genomic DNA of patients from a family w ith Axenfeld-Rieger syndrome was extracted from leukocytes, and exons of th e FKHL7 gene were amplified by polymerase chain reaction for direct sequenc ing. RESULTS: Molecular genetic analysis disclosed that one Japanese family with Axenfeld-Rieger syndrome had a heterozygous C to A transversion in the fir st nucleotide at codon 79, designated Pro79Thr mutation in the FKHL7 gene. CONCLUSION: Considering this novel Pro79Thr mutation together with previous ly reported findings, it is indicated that the clinical features of Axenfel d-Rieger syndrome may depend on the portion of the FKHL7 gene affected by t he mutation, although more case reports are needed to clarify genotype-phen otype correlations of the FKHL7 gene. (C) 2001 by Elsevier Science Inc. All rights reserved.