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Abstract #5557 Published in IGR 2-1
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25
Mirzayans F; Gould DB; Heon E; Billingsley GD; Cheung JC; Mears AJ; Walter MAEuropean Journal of Human Genetics 2000; 8: 71-74
Mutations in the forkhead-like 7 (FKHL7) gene have been recently shown to cause juvenile glaucoma and anterior segment anomalies. The authors report on a three-generation family with Axenfeld-Rieger syndrome (ARS), harboring an alteration in the FKHL7 gene. Genetic linkage analyses excluded the ARS phenotype from chromosomes 4q25 and 13q14, the locations of the PITX2 and RIEG2 loci, respectively. Evidence of linkage was observed with markers at 6p25, near the FKHL7 gene. Direct sequencing of FKHL7 detected a C67T mutation that segregated with the ARS phenotype in this family, but was not detected in over 80 control chromosomes. This mutation is predicted to cause a nonsense mutation of the FKHL7 protein (Gln23Stop) upstream of the forkhead DNA-binding domain, and thus to generate a truncated FKHL7 protein product. This discovery broadly implicates FKHL7 in ocular, craniofacial, dental, and umbilical development.
Dr. F. Mirzayans, Department of Ophthalmology, University of Alberta, Edmonton, Canada
Classification:
1.2 Population genetics (Part of: 1 General aspects)
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
