title: Profiling Fanconi Anemia Gene Mutations among Iranian Patients.
abstract: BACKGROUND
  Fanconi anemia (FA) is a rare genetic syndrome characterized by developmental defects, bone marrow failure, and a high cancer risk. FA is usually inherited as an autosomal recessive condition. This disease is genetically heterogeneous and mutations in 16 different genes have been identified in FA patients to date. An accurate diagnosis needs detection of pathogenic variations in the FA genes along with positive results from chromosome breakage test.
  
  
  METHODS
  In this study, 48 families with at least 2 affected FA patients and positive chromosome breakage test were enrolled from the Iranian population. Molecular analysis of FA genes was performed using Next Generation Sequencing (NGS) method and Multiple Ligation Dependent Probe Amplification (MLPA).
  
  
  RESULTS
  Causal mutations for 30 (63%) patients were identified in homozygous or compound heterozygous forms. FANCA had the highest mutation frequency rate (83%) followed by FANCG (10%), FANCD2 (3%) and FANCL (3%). A significant proportion (44%) of FANCA mutations were large rearrangements.
  
  
  CONCLUSIONS
  Genetic testing for FA patients improves the accuracy of diagnosis and also will be essential for genetic counselling and prenatal diagnosis for future pregnancies in the family. Availability of NGS technology has made the screening of all known FA genes at once more practical and affordable.
authors.affiliation: Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
authors.forename: Giti
authors.initials: G
authors.lastname: Esmail Nia
authors.affiliation: Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
authors.forename: Mahsa
authors.initials: M
authors.lastname: Fadaee
authors.affiliation: Women's College Research Institute, Women's College Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Robert
authors.initials: R
authors.lastname: Royer
authors.affiliation: Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.affiliation: 2)Women's College Research Institute, Women's College Hospital, University of Toronto, Toronto, Ontario, Canada. 3)Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Mohammad R
authors.initials: MR
authors.lastname: Akbari
mesh_terms: D000328:Adult; D002675:Child, Preschool; D019457:Chromosome Breakage; D004252:DNA Mutational Analysis; D005199:Fanconi Anemia / Q000175:diagnosis / Q000235:genetics*; D051856:Fanconi Anemia Complementation Group Proteins / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation
chemical_list: D051856:Fanconi Anemia Complementation Group Proteins