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Fanconi anaemia complementation groups in Germany and The Netherlands

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Abstract

Fanconi anaemia (FA) is an autosomal recessive chromosomal instability disorder with extensive genetic heterogeneity. We determined the genetic subtypes in 28 ethnically and clinically unselected FA patients from Germany and The Netherlands, by complementation analysis. All five currently known complementation groups (FA-A to FA-E) appeared to be represented in the sample studied. The distribution of subtypes differed markedly in the two countries: FA-A patients were most prevalent in Germany (13/22, 59%), whereas in The Netherlands, the majority of patients were FA-C (4/6, 67%). This geographical inhomogeneity has implications for mutation-screening strategies in European FA patients.

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Authors and Affiliations

  1. Department of Human Genetics, Free University, Van der Boechorststraat 7, 1081 BT, Amsterdam, The Netherlands

    Hans Joenje

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  1. Hans Joenje
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European Fanconi Anaemia Research group

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Dedicated to Professor Traute Schroeder-Kurth on the occasion of her retirement from the chair of Cytogenetics, University of Heidelberg

European Fanconi Anaemia Research (EUFAR) is a concerted action of nine research institutions in five European Union countries, supported by the Commission of the European Union, contract no PL931562. Principal investigators: E. Gluckman (project-leader), E. Moustacchi (Paris); T. Schroeder-Kurth (Heidelberg); H. Hoehn (Würzburg); M. Digweed (Berlin); C. Mathew (London); A. Savoia (S. Giovanni-Rotondo); F. Arwert, H. Joenje, A. Westerveld (Amsterdam); M.Z. Zdzienicka (Leiden). EUFAR relies on collaboration with many clinicians from Europe and elsewhere who supply samples from FA families for EUFAR's research programme. Clinical coordinators are for Germany: T. Schroeder-Kurth, Heidelberg; W. Ebell, Hannover; W. Friedrich, Ulm; for The Netherlands: M.L. Kwee, L.P. ten Kate, Amsterdam

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Joenje, H., European Fanconi Anaemia Research group. Fanconi anaemia complementation groups in Germany and The Netherlands. Hum Genet 97, 280–282 (1996). https://doi.org/10.1007/BF02185753

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