A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.
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ABSTRACT:
SUBMITTER: Ameziane N
PROVIDER: S-EPMC4703882 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Publications
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.
Ameziane Najim N May Patrick P Haitjema Anneke A van de Vrugt Henri J HJ van Rossum-Fikkert Sari E SE Ristic Dejan D Williams Gareth J GJ Balk Jesper J Rockx Davy D Li Hong H Rooimans Martin A MA Oostra Anneke B AB Velleuer Eunike E Dietrich Ralf R Bleijerveld Onno B OB Maarten Altelaar A F AF Meijers-Heijboer Hanne H Joenje Hans H Glusman Gustavo G Roach Jared J Hood Leroy L Galas David D Wyman Claire C Balling Rudi R den Dunnen Johan J de Winter Johan P JP Kanaar Roland R Gelinas Richard R Dorsman Josephine C JC
Nature communications 20151218
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-li ...[more]
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