title: A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network.
abstract: BACKGROUND
  Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients in gene therapy trials.
  
  
  OBJECTIVE
  To determine the subtype of Fanconi anaemia patients in Spain, a Mediterranean country with a relatively high population (23%) of Fanconi anaemia patients belonging to the gypsy race.
  
  
  METHODS
  Most patients could be subtyped by retroviral complementation approaches in peripheral blood T cells, although some mosaic patients were subtyped in cultured skin fibroblasts. Other approaches, mainly based on western blot analysis and generation of nuclear RAD51 and FANCJ foci, were required for the subtyping of a minor number of patients.
  
  
  CONCLUSIONS
  From a total of 125 patients included in the Registry of Fanconi Anaemia, samples from 102 patients were available for subtyping analyses. In 89 cases the subtype could be determined and in 8 cases exclusions of common complementation groups were made. Compared with other international studies, a skewed distribution of complementation groups was observed in Spain, where 80% of the families belonged to the Fanconi anaemia group A (FA-A) complementation group. The high proportion of gypsy patients, all of them FA-A, and the absence of patients with FA-C account for this characteristic distribution of complementation groups.
authors.affiliation: Spanish Fanconi Anemia Research Network and Centre for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.
authors.forename: José
authors.initials: J
authors.lastname: Antonio Casado
authors.forename: Elsa
authors.initials: E
authors.lastname: Callén
authors.forename: Ariana
authors.initials: A
authors.lastname: Jacome
authors.forename: Paula
authors.initials: P
authors.lastname: Río
authors.forename: Maria
authors.initials: M
authors.lastname: Castella
authors.forename: Stephan
authors.initials: S
authors.lastname: Lobitz
authors.forename: Teresa
authors.initials: T
authors.lastname: Ferro
authors.forename: Arturo
authors.initials: A
authors.lastname: Muñoz
authors.forename: Julián
authors.initials: J
authors.lastname: Sevilla
authors.forename: Angeles
authors.initials: A
authors.lastname: Cantalejo
authors.forename: Elena
authors.initials: E
authors.lastname: Cela
authors.forename: José
authors.initials: J
authors.lastname: Cervera
authors.forename: Jesús
authors.initials: J
authors.lastname: Sánchez-Calero
authors.forename: Isabel
authors.initials: I
authors.lastname: Badell
authors.forename: Jesús
authors.initials: J
authors.lastname: Estella
authors.forename: Angeles
authors.initials: A
authors.lastname: Dasí
authors.forename: Teresa
authors.initials: T
authors.lastname: Olivé
authors.forename: Juan
authors.initials: J
authors.lastname: José Ortega
authors.forename: Antonia
authors.initials: A
authors.lastname: Rodriguez-Villa
authors.forename: María
authors.initials: M
authors.lastname: Tapia
authors.forename: Antonio
authors.initials: A
authors.lastname: Molinés
authors.forename: Luis
authors.initials: L
authors.lastname: Madero
authors.forename: José C
authors.initials: JC
authors.lastname: Segovia
authors.forename: Kornelia
authors.initials: K
authors.lastname: Neveling
authors.forename: Reinhard
authors.initials: R
authors.lastname: Kalb
authors.forename: Detlev
authors.initials: D
authors.lastname: Schindler
authors.forename: Helmut
authors.initials: H
authors.lastname: Hanenberg
authors.forename: Jordi
authors.initials: J
authors.lastname: Surrallés
authors.forename: Juan A
authors.initials: JA
authors.lastname: Bueren
mesh_terms: D000465:Algorithms; D002478:Cells, Cultured / Q000737:chemistry / Q000187:drug effects; D003241:Consanguinity; D004351:Drug Resistance / Q000235:genetics; D004852:Epoxy Compounds / Q000494:pharmacology; D005199:Fanconi Anemia / Q000145:classification* / Q000453:epidemiology / Q000235:genetics; D052217:Fanconi Anemia Complementation Group A Protein / Q000235:genetics; D051856:Fanconi Anemia Complementation Group Proteins / Q000032:analysis / Q000172:deficiency / Q000235:genetics*; D005347:Fibroblasts / Q000737:chemistry / Q000473:pathology; D005816:Genetic Complementation Test; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D015994:Incidence; D016685:Mitomycin / Q000494:pharmacology; D009030:Mosaicism; D012042:Registries; D012190:Retroviridae / Q000235:genetics; D006178:Romani People / Q000235:genetics*; D013030:Spain / Q000453:epidemiology; D013601:T-Lymphocytes / Q000737:chemistry / Q000187:drug effects / Q000473:pathology; D014161:Transduction, Genetic
chemical_list: D004852:Epoxy Compounds; D052217:Fanconi Anemia Complementation Group A Protein; D051856:Fanconi Anemia Complementation Group Proteins; D016685:Mitomycin; C007366:diepoxybutane