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

Peter E. Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Hirohisa Nitta, Motoko Unoki, Minako Yoshihara, Mikita Suyama, Yu Sun, Richard J.L.F. Lemmers, Jessica C. De Greef, Andrew Gennery, Paolo Picco, Barbara Kloeckener-Gruissem, Tayfun Güngör, Ismail Reisli, Capucine Picard, Kamila Kebaili, Bertrand RoquelaureTsuyako Iwai, Ikuko Kondo, Takeo Kubota, Monique M. Van Ostaijen-Ten Dam, Maarten J.D. Van Tol, Corry Weemaes, Claire Francastel, Silvère M. Van Der Maarel, Hiroyuki Sasaki

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    57 Citations (Scopus)

    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.

    Original languageEnglish
    Article number7870
    JournalNature communications
    Volume6
    DOIs
    Publication statusPublished - Jul 28 2015

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    All Science Journal Classification (ASJC) codes

    • Chemistry(all)
    • Biochemistry, Genetics and Molecular Biology(all)
    • Physics and Astronomy(all)

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