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

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dc.contributor.authorThijssen, Peter E.
dc.contributor.authorIto, Yuya
dc.contributor.authorGrillo, Giacomo
dc.contributor.authorWang, Jun
dc.contributor.authorVelasco, Guillaume
dc.contributor.authorNitta, Hirohisa
dc.contributor.authorUnoki, Motoko
dc.date.accessioned2024-02-23T14:16:43Z
dc.date.available2024-02-23T14:16:43Z
dc.date.issued2015
dc.departmentNEÜen_US
dc.description.abstractThe 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.en_US
dc.description.sponsorshipKAKENHI [22134006, 23249019, 26253020]; National Institutes of Health/National Institute of Allergy and Infectious Diseases [R21 AI090135]; European Community [2012-305121]; French National Research Agency-Program on physiopathology of rare diseases [ANR-09-GENO-035]; Grants-in-Aid for Scientific Research [26253020, 23249019] Funding Source: KAKENen_US
dc.description.sponsorshipWe thank all patients and their families for their consent to contribute to our study. We thank K. Ichiyanagi and L. Daxinger for helpful advice, staff of the Kyushu University International Legal Office for help in legal and ethical affairs, and T.P. Pham, S.L. Hocker, M. Miyake and H. Furuumi for technical assistance. This work was supported by KAKENHI (22134006, 23249019 and 26253020), the National Institutes of Health/National Institute of Allergy and Infectious Diseases (R21 AI090135), European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 2012-305121 'Integrated European-omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS)' and French National Research Agency-Program on physiopathology of rare diseases (ANR-09-GENO-035).en_US
dc.identifier.doi10.1038/ncomms8870
dc.identifier.issn2041-1723
dc.identifier.pmid26216346en_US
dc.identifier.scopus2-s2.0-84938151124en_US
dc.identifier.urihttps://doi.org/10.1038/ncomms8870
dc.identifier.urihttps://hdl.handle.net/20.500.12452/12754
dc.identifier.volume6en_US
dc.identifier.wosWOS:000358862000001en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherNature Portfolioen_US
dc.relation.ispartofNature Communicationsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[Keyword Not Available]en_US
dc.titleMutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndromeen_US
dc.typeArticleen_US

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