title: Investigation of FANCA mutations in Greek patients.
abstract: 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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Aghia 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
authors.forename: Nikoletta
authors.initials: N
authors.lastname: Selenti
authors.forename: Christalena
authors.initials: C
authors.lastname: Sofocleous
authors.forename: Antonis
authors.initials: A
authors.lastname: Kattamis
authors.forename: Aggeliki
authors.initials: A
authors.lastname: Kolialexi
authors.forename: Sophia
authors.initials: S
authors.lastname: Kitsiou
authors.forename: Elena
authors.initials: E
authors.lastname: Fryssira
authors.forename: Sophia
authors.initials: S
authors.lastname: Polychronopoulou
authors.forename: Emmanouel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Ariadni
authors.initials: A
authors.lastname: Mavrou
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D020732:Cytogenetic Analysis; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005199:Fanconi Anemia / Q000150:complications / Q000235:genetics*; D052217:Fanconi Anemia Complementation Group A Protein / Q000235:genetics*; D006115:Greece; D006801:Humans; D007223:Infant; D008677:Metaphase / Q000187:drug effects / Q000235:genetics; D016685:Mitomycin / Q000494:pharmacology; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics*; D013933:Thumb / Q000002:abnormalities; D014429:Twins, Dizygotic / Q000235:genetics; D055815:Young Adult
chemical_list: C498471:FANCA protein, human; D052217:Fanconi Anemia Complementation Group A Protein; D016685:Mitomycin
keywords: FANCA gene; Fanconi anemia; Greek patients; cytogenetic and molecular investigation; mutation