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Blood, 1 March 2005, Vol. 105, No. 5, pp. 1946-1949. Prepublished online as a Blood First Edition Paper on November 2, 2004; DOI 10.1182/blood-2004-07-2588. This Article Full Text (PDF) Erratum (v105,p3404) All Versions of this Article: 2004-07-2588v1 105/5/1946    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Callen, E. Articles by Surralles, J. Search for Related Content PubMed PubMed Citation Articles by Callen, E. Articles by Surralles, J. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted July 14, 2004 Accepted October 1, 2004 A common founder mutation in FANCA underlies the world highest prevalence of Fanconi anemia in gypsy families from Spain Elsa Callen, Jose A Casado, Marc D Tischkowitz, Juan A Bueren, Amadeu Creus, Ricard Marcos, Angeles Dasi, Jesus M Estella, Arturo Munoz, Juan J Ortega, Johan de Winter, Hans Joenje, Detlev Schindler, Helmut Hanenberg, Shirley V Hodgson, Christopher G Mathew, and Jordi Surralles* Universitat Autonoma de Barcelona, Barcelona, Spain CIEMAT/Fundacion Marcelino Botin, Madrid, Spain Department of Medical and Molecular Genetics, Guy's, King's and St Thomas' School of Medicine, London, United Kingdom Hospital Universitario la Fe, Valencia, Spain Hospital Sant Joan de Deu, Esplugues, Spain Hospital Ramon y Cajal, Madrid, Spain Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain Free University of Amsterdam, Amsterdam, The Netherlands University of Wurzburg, Wurzburg, Germany Heinrich-Heine-Universitat, Dusseldorf, Germany * Corresponding author; email: jordi.surralles{at}uab.es. Fanconi anemia (FA) is a genetic disease characterized by bone-marrow failure and cancer predisposition. Here we have identified Spanish Gypsies as the ethnic group with the world highest prevalence of FA (carrier frequency of 1/64-1/70). DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families revealed a homozygous FANCA mutation (295C>T) leading to FANCA truncation and FA pathway disruption. This mutation appeared specific for Spanish Gypsies as it is not found in other Gypsy FA patients from Hungary, Germany, Slovakia and Ireland. Haplotype analysis showed that Spanish Gypsy patients all share the same haplotype. Our data thus suggest that the high incidence of FA among Spanish Gypsies is due to an ancestral founder mutation in FANCA that originated in Spain less than six hundred years ago. The high carrier frequency makes the Spanish Gypsies a population model to study FA heterozygote mutations in cancer. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: J. Antonio Casado, E. Callen, A. Jacome, P. Rio, M. Castella, S. Lobitz, T. Ferro, A. Munoz, J. Sevilla, A. Cantalejo, et al. A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network J. Med. Genet., April 1, 2007; 44(4): 241 - 249. [Abstract] [Full Text] [PDF]

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