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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.

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HEMATOPOIESIS
Brief report

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain

Elsa Callén, José A. Casado, Marc D. Tischkowitz, Juan A. Bueren, Amadeu Creus, Ricard Marcos, Angeles Dasí, Jesús M. Estella, Arturo Muñoz, Juan J. Ortega, Johan de Winter, Hans Joenje, Detlev Schindler, Helmut Hanenberg, Shirley V. Hodgson, Christopher G. Mathew, and Jordi Surrallés

From the Universitat Autònoma de Barcelona and the Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain; CIEMAT/Fundación Marcelino Botín and Hospital Ramón y Cajal, Madrid, Spain; Hospital Universitario la Fe, Valencia, Spain; Hospital Sant Joan de Déu, Esplugues, Spain; University of Wurzburg, Wurzburg, Germany; Heinrich-Heine-Universitat, Dusseldorf, Germany; Free University of Amsterdam, The Netherlands; and Department of Medical and Molecular Genetics, Guy's, King's, and St Thomas' School of Medicine, London, United Kingdom.

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's highest prevalence of FA (carrier frequency of 1/64-1/70). DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping 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 patients with FA 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 600 years ago. The high carrier frequency makes the Spanish Gypsies a population model to study FA heterozygote mutations in cancer.


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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.
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