Reference : A novel Fanconi anemia subtype associated with a dominant-negative mutation in RAD51
Scientific journals : Article
Life sciences : Genetics & genetic processes
Human health sciences : Oncology
A novel Fanconi anemia subtype associated with a dominant-negative mutation in RAD51
Ameziane, Najim [> >]
May, Patrick mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Van de Vrugt, Henri J. [> >]
Van Rossum-Fikkert, Sari E. [> >]
Ristic, Dejan [> >]
Williams, Gareth J. [> >]
Balk, Jesper [> >]
Rockx, Davy [> >]
Li, Hong [> >]
Rooimans, Martin A. [> >]
Oostra, Anneke B. [> >]
Velleuer, Eunike [> >]
Dietrich, Ralf [> >]
Bleijerveld, Onno B. [> >]
Altelaar, A.F. Maarten [> >]
Meijers-Heijboer, Hanne [> >]
Joenje, Hans [> >]
Glusman, Gustavo [> >]
Roach, Jared C. [> >]
Hood, Leroy [> >]
Galas, David J. [> >]
Balling, Rudi mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
den Dunnen, Johan [> >]
De Winter, Johan P. [> >]
Kanaar, Roland [> >]
Gelinas, Richard [> >]
Dorsman, Josephine C. [> >]
Nature Communications
Nature Pub.lishing Group
Yes (verified by ORBilu)
United Kingdom
[en] Fanconi anemia ; RAD51 ; DNA repair
[en] Fanconi anemia (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. 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 pediatric 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.
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) ; Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) ; University of Luxembourg: High Performance Computing - ULHPC

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