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

Ameziane, Najim; May, Patrick; 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; den Dunnen, Johan; De Winter, Johan P.; Kanaar, Roland; Gelinas, Richard; Dorsman, Josephine C.

doi:10.1038/ncomms9829

Reference : A novel Fanconi anemia subtype associated with a dominant-negative mutation in RAD51


	Document type :	Scientific journals : Article
	Discipline(s) :	Life sciences : Genetics & genetic processes Human health sciences : Oncology
	To cite this reference:	http://hdl.handle.net/10993/23086

Title :	A novel Fanconi anemia subtype associated with a dominant-negative mutation in RAD51
Language :	English
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 [> >]
	Galas, David J. [> >]
	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. [> >]
Publication date :	18-Dec-2015
Journal title :	Nature Communications
Publisher :	Nature Pub.lishing Group
Volume :	6
Issue/season :	8829
Peer reviewed :	Yes (verified by ORBi^lu)
Audience :	International
e-ISSN :	2041-1723
City :	London
Country :	United Kingdom
Keywords :	[en] 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 centres :	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
Target :	Researchers
Permalink :	http://hdl.handle.net/10993/23086
DOI :	10.1038/ncomms9829
Other URL :	http://www.nature.com/ncomms/2015/151218/ncomms9829/full/ncomms9829.html

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