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Abstract #18537 Published in IGR 3-3
A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome
Suzuki T; Takahashi K; Kuwahara S; Wada Y; Abe T; Tamai MAmerican Journal of Ophthalmology 2001; 132: 572-575
PURPOSE: To report the ocular and genetic findings of a Japanese family with Axenfeld-Rieger syndrome associated with a novel Pro79Thr mutation in the FKHL7 gene. METHODS: Observational case series. Genomic DNA of patients from a family with Axenfeld-Rieger syndrome was extracted from leukocytes, and exons of the FKHL7 gene were amplified by polymerase chain reaction for direct sequencing. RESULTS: Molecular genetic analysis disclosed that one Japanese family with Axenfeld-Rieger syndrome had a heterozygous C to A transversion in the first nucleotide at codon 79, designated Pro79Thr mutation in the FKHL7 gene. CONCLUSIONS: Considering this novel Pro79Thr mutation together with previously reported findings, it is indicated that the clinical features of Axenfeld-Rieger syndrome may depend on the portion of the FKHL7 gene affected by the mutation, although more case reports are needed to clarify genotype-phenotype correlations of the FKHL7 gene.
Dr T. Suzuki, Department of Ophthalmology, Tohoku University School of Medicine, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8574, Japan. TS@oph.med.tohoku.ac.jp
Classification:
1.2 Population genetics (Part of: 1 General aspects)