Article (Scientific journals)
A novel Fanconi anemia subtype associated with a dominant-negative mutation in RAD51
Ameziane, Najim; MAY, Patrick; Van de Vrugt, Henri J. et al.
2015In Nature Communications, 6 (8829)
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Keywords :
Fanconi anemia; RAD51; DNA repair
Abstract :
[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.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group)
ULHPC - University of Luxembourg: High Performance Computing
Disciplines :
Oncology
Genetics & genetic processes
Author, co-author :
Ameziane, Najim
MAY, Patrick  ;  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
BALLING, Rudi ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
den Dunnen, Johan
De Winter, Johan P.
Kanaar, Roland
Gelinas, Richard
Dorsman, Josephine C.
More authors (17 more) Less
External co-authors :
yes
Language :
English
Title :
A novel Fanconi anemia subtype associated with a dominant-negative mutation in RAD51
Publication date :
18 December 2015
Journal title :
Nature Communications
eISSN :
2041-1723
Publisher :
Nature Pub.lishing Group, London, United Kingdom
Volume :
6
Issue :
8829
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBilu :
since 19 December 2015

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