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Human Genetics

, Volume 98, Issue 5, pp 522–523 | Cite as

Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant

  • Jerome R. Lo Ten Foe
  • Martine T. Barel
  • Peter Thuß
  • Martin Digweed
  • Fré Arwert
  • H. Joenje
Original investigation

Abstract

Fanconi anaemia (FA) is a rare autosomal recessive disorder associated with diverse clinical symptoms, increased chromosomal instability and a marked hypersensitivity to crosslinking agents. At least five complementation groups have been defined, the gene for group C (FAC) being the only FA gene cloned thus far. Several sequence variations have been detected in FA patients, whose assignment to group C, however, had not been ascertained by complementation studies. Using a functional assay, in which we tested the capacity of a variant sequence to correct the defect in FA-C lymphoblasts, we provide evidence for the pathogenic status of 1806insA and R548X and for non-pathogenicity of D195V.

Keywords

Clinical Symptom Sequence Variation Crosslinking Agent Functional Assay Fanconi Anaemia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Copyright information

© Springer-Verlag Berlin Heidelberg 1996

Authors and Affiliations

  • Jerome R. Lo Ten Foe
    • 1
  • Martine T. Barel
    • 1
  • Peter Thuß
    • 2
  • Martin Digweed
    • 2
  • Fré Arwert
    • 1
  • H. Joenje
    • 1
  1. 1.Department of Human Genetics, Free University, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands Tel.: +31-20-4448270; Fax: +31-20-448285 e-mail: H.Joenje.HumGen@med.vu.nlNL
  2. 2.Institut für Humangenetik, Virchow-Klinikum, Forschungshaus, Augustenburgerplatz 1, D-13353 Berlin, GermanyDE

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