A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

Najim Ameziane, Patrick May, Anneke Haitjema, Henri J. van de Vrugt, Sari E. van Rossum-Fikkert, Dejan Ristic, Gareth J. Williams, Jesper Balk, Davy Rockx, Hong Li, Martin A. Rooimans, Anneke B. Oostra, Eunike Velleuer, Ralf Dietrich, Onno B. Bleijerveld, A. F. Maarten Altelaar, Hanne Meijers-Heijboer, Hans Joenje, Gustavo Glusman, Jared Roach, Leroy Hood, David Galas, Claire Wyman, Rudi Balling, Johan den Dunnen, Johan P. de Winter, Roland Kanaar, Richard Gelinas () and Josephine C. Dorsman ()
Additional contact information
Najim Ameziane: VU University Medical Center
Patrick May: Luxembourg Centre for Systems Biomedicine, House of Biomedicine
Anneke Haitjema: VU University Medical Center
Henri J. van de Vrugt: VU University Medical Center
Sari E. van Rossum-Fikkert: Cancer Genomics Center
Dejan Ristic: Cancer Genomics Center
Gareth J. Williams: Lawrence Berkeley National Laboratory
Jesper Balk: VU University Medical Center
Davy Rockx: VU University Medical Center
Hong Li: Institute for Systems Biology
Martin A. Rooimans: VU University Medical Center
Anneke B. Oostra: VU University Medical Center
Eunike Velleuer: Hematology and Clinical Immunology, Center for Child and Adolescent Health, Medical Faculty, Heinrich Heine University
Ralf Dietrich: Deutsche Fanconi-Anämie-Hilfe e.V.
Onno B. Bleijerveld: Mass Spectrometry and Proteomics Facility, The Netherlands Cancer Institute
A. F. Maarten Altelaar: Mass Spectrometry and Proteomics Facility, The Netherlands Cancer Institute
Hanne Meijers-Heijboer: VU University Medical Center
Hans Joenje: VU University Medical Center
Gustavo Glusman: Institute for Systems Biology
Jared Roach: Institute for Systems Biology
Leroy Hood: Institute for Systems Biology
David Galas: Luxembourg Centre for Systems Biomedicine, House of Biomedicine
Claire Wyman: Cancer Genomics Center
Rudi Balling: Luxembourg Centre for Systems Biomedicine, House of Biomedicine
Johan den Dunnen: Leiden University Medical Center
Johan P. de Winter: VU University Medical Center
Roland Kanaar: Cancer Genomics Center
Richard Gelinas: Institute for Systems Biology
Josephine C. Dorsman: VU University Medical Center

Nature Communications, 2015, vol. 6, issue 1, 1-11

Abstract: Abstract Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cross-linker-induced chromosomal instability in association with developmental abnormalities, bone marrow failure and a strong predisposition to cancer. A total of 17 FA disease genes have been reported, all of which act in a recessive mode of inheritance. Here we report on a de novo g.41022153G>A; p.Ala293Thr (NM_002875) missense mutation in one allele of the homologous recombination DNA repair gene RAD51 in an FA-like patient. This heterozygous mutation causes a novel FA subtype, ‘FA-R’, which appears to be the first subtype of FA caused by a dominant-negative mutation. The patient, who features microcephaly and mental retardation, has reached adulthood without the typical bone marrow failure and paediatric cancers. Together with the recent reports on RAD51-associated congenital mirror movement disorders, our results point to an important role for RAD51-mediated homologous recombination in neurodevelopment, in addition to DNA repair and cancer susceptibility.

Date: 2015
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DOI: 10.1038/ncomms9829

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