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Investigation of FANCA mutations in Greek patients
Nikoletta Selenti1, Christalena Sofocleous, Antonis Kattamis
1Aghia Sophia Children's Hospital, Department of Medical Genetics, Athens University School of Medicine, Thivon and Levadeias 11527, Goudi, Athens, 2nd floor, Room 26, Greece. nikoletta_selenti@hotmail.com
Background:
Fanconi anemia (FA) is a rare genetic disease characterized by considerable heterogeneity. Fifteen subtypes are currently recognised and deletions of the Fanconi anemia complementation group A (FANCA) gene account for more than 65% of FA cases. We report on the results from a cohort of 166 patients referred to the Department of Medical Genetics of Athens University for genetic investigation after the clinical suspicion of FA.
Materials And Methods:
For clastogen-induced chromosome damage, cultures were set up with the addition of mitomycin C (MMC) and diepoxybutane (DEB), respectively. Following a positive cytogenetic result, molecular analysis was performed to allow identification of causative mutations in the FANCA gene.
Results:
A total of 13/166 patients were diagnosed with FA and 8/13 belonged to the FA-A subtype. A novel point mutation was identified in exon 26 of FANCA gene.
Conclusion:
In our study 62% of FA patients were classified in the FA-A subtype and a point mutation in exon 26 was noted for the first time.
