Mutation of the RAD51C gene in a Fanconi anemia-like disorder

Fiona Vaz; Helmut Hanenberg; Beatrice Schuster; Karen Barker; Constanze Wiek; Verena Erven; Kornelia Neveling; Daniela Endt; Ian Kesterton; Flavia Autore; Franca Fraternali; Marcel Freund; Linda Hartmann; David Grimwade; Roland G. Roberts; Heiner Schaal; Shehla Mohammed; Nazneen Rahman; Detlev Schindler; Christopher G. Mathew

doi:10.1038/ng.570

Mutation of the RAD51C gene in a Fanconi anemia-like disorder

Fiona Vaz, Helmut Hanenberg, Beatrice Schuster, Karen Barker, Constanze Wiek, Verena Erven, Kornelia Neveling, Daniela Endt, Ian Kesterton, Flavia Autore, Franca Fraternali, Marcel Freund, Linda Hartmann, David Grimwade, Roland G. Roberts, Heiner Schaal, Shehla Mohammed , Nazneen Rahman, Detlev Schindler, Christopher G. Mathew

Research output: Contribution to journal › Article › peer-review

333 Citations (Scopus)

Abstract

Fanconi anemia (FA) is a rare chromosomal-instability disorder associated with a variety of developmental abnormalities, bone marrow failure and predisposition to leukemia and other cancers(1). We have identified a homozygous missense mutation in the RAD51C gene in a consanguineous family with multiple severe congenital abnormalities characteristic of FA. RAD51C is a member of the RAD51-like gene family involved in homologous recombination-mediated DNA repair. The mutation results in loss of RAD51 focus formation in response to DNA damage and in increased cellular sensitivity to the DNA interstrand cross-linking agent mitomycin C and the topoisomerase-1 inhibitor camptothecin. Thus, biallelic germline mutations in a RAD51 paralog are associated with an FA-like syndrome.

Original language	English
Pages (from-to)	406 - 409
Number of pages	4
Journal	Nature Genetics
Volume	42
Issue number	5
DOIs	https://doi.org/10.1038/ng.570
Publication status	Published - May 2010

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Vaz, F., Hanenberg, H., Schuster, B., Barker, K., Wiek, C., Erven, V., Neveling, K., Endt, D., Kesterton, I., Autore, F., Fraternali, F., Freund, M., Hartmann, L., Grimwade, D., Roberts, R. G., Schaal, H., Mohammed , S., Rahman, N., Schindler, D., & Mathew, C. G. (2010). Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nature Genetics, 42(5), 406 - 409. https://doi.org/10.1038/ng.570

@article{bf39acf0e2c848b1be5fed9d8589affb,

title = "Mutation of the RAD51C gene in a Fanconi anemia-like disorder",

abstract = "Fanconi anemia (FA) is a rare chromosomal-instability disorder associated with a variety of developmental abnormalities, bone marrow failure and predisposition to leukemia and other cancers(1). We have identified a homozygous missense mutation in the RAD51C gene in a consanguineous family with multiple severe congenital abnormalities characteristic of FA. RAD51C is a member of the RAD51-like gene family involved in homologous recombination-mediated DNA repair. The mutation results in loss of RAD51 focus formation in response to DNA damage and in increased cellular sensitivity to the DNA interstrand cross-linking agent mitomycin C and the topoisomerase-1 inhibitor camptothecin. Thus, biallelic germline mutations in a RAD51 paralog are associated with an FA-like syndrome.",

author = "Fiona Vaz and Helmut Hanenberg and Beatrice Schuster and Karen Barker and Constanze Wiek and Verena Erven and Kornelia Neveling and Daniela Endt and Ian Kesterton and Flavia Autore and Franca Fraternali and Marcel Freund and Linda Hartmann and David Grimwade and Roberts, {Roland G.} and Heiner Schaal and Shehla Mohammed and Nazneen Rahman and Detlev Schindler and Mathew, {Christopher G.}",

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doi = "10.1038/ng.570",

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Vaz, F, Hanenberg, H, Schuster, B, Barker, K, Wiek, C, Erven, V, Neveling, K, Endt, D, Kesterton, I, Autore, F, Fraternali, F, Freund, M, Hartmann, L, Grimwade, D , Roberts, RG, Schaal, H, Mohammed , S, Rahman, N, Schindler, D & Mathew, CG 2010, 'Mutation of the RAD51C gene in a Fanconi anemia-like disorder', Nature Genetics, vol. 42, no. 5, pp. 406 - 409. https://doi.org/10.1038/ng.570

TY - JOUR

T1 - Mutation of the RAD51C gene in a Fanconi anemia-like disorder

AU - Vaz, Fiona

AU - Hanenberg, Helmut

AU - Schuster, Beatrice

AU - Barker, Karen

AU - Wiek, Constanze

AU - Erven, Verena

AU - Neveling, Kornelia

AU - Endt, Daniela

AU - Kesterton, Ian

AU - Autore, Flavia

AU - Fraternali, Franca

AU - Freund, Marcel

AU - Hartmann, Linda

AU - Grimwade, David

AU - Roberts, Roland G.

AU - Schaal, Heiner

AU - Mohammed , Shehla

AU - Rahman, Nazneen

AU - Schindler, Detlev

AU - Mathew, Christopher G.

PY - 2010/5

Y1 - 2010/5

N2 - Fanconi anemia (FA) is a rare chromosomal-instability disorder associated with a variety of developmental abnormalities, bone marrow failure and predisposition to leukemia and other cancers(1). We have identified a homozygous missense mutation in the RAD51C gene in a consanguineous family with multiple severe congenital abnormalities characteristic of FA. RAD51C is a member of the RAD51-like gene family involved in homologous recombination-mediated DNA repair. The mutation results in loss of RAD51 focus formation in response to DNA damage and in increased cellular sensitivity to the DNA interstrand cross-linking agent mitomycin C and the topoisomerase-1 inhibitor camptothecin. Thus, biallelic germline mutations in a RAD51 paralog are associated with an FA-like syndrome.

AB - Fanconi anemia (FA) is a rare chromosomal-instability disorder associated with a variety of developmental abnormalities, bone marrow failure and predisposition to leukemia and other cancers(1). We have identified a homozygous missense mutation in the RAD51C gene in a consanguineous family with multiple severe congenital abnormalities characteristic of FA. RAD51C is a member of the RAD51-like gene family involved in homologous recombination-mediated DNA repair. The mutation results in loss of RAD51 focus formation in response to DNA damage and in increased cellular sensitivity to the DNA interstrand cross-linking agent mitomycin C and the topoisomerase-1 inhibitor camptothecin. Thus, biallelic germline mutations in a RAD51 paralog are associated with an FA-like syndrome.

U2 - 10.1038/ng.570

DO - 10.1038/ng.570

M3 - Article

SN - 1546-1718

VL - 42

SP - 406

EP - 409

JO - Nature Genetics

JF - Nature Genetics

IS - 5

ER -

Mutation of the RAD51C gene in a Fanconi anemia-like disorder

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