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Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

Lookup NU author(s): Professor Andrew GenneryORCiD

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Abstract

The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all genes act in common or converging pathways leading to the ICF phenotype.


Publication metadata

Author(s): Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJLF, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Gungor T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJD, Weemaes C, Francastel C, van der Maarel SM, Sasaki H

Publication type: Article

Publication status: Published

Journal: Nature Communications

Year: 2015

Volume: 6

Online publication date: 28/07/2015

Acceptance date: 19/06/2015

ISSN (print): 2041-1723

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/ncomms8870

DOI: 10.1038/ncomms8870


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Funding

Funder referenceFunder name
22134006KAKENHI
23249019KAKENHI
2012-305121European Community
26253020KAKENHI
ANR-09-GENO-035French National Research Agency-Program on physiopathology of rare diseases
R21 AI090135National Institutes of Health/National Institute of Allergy and Infectious Diseases

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