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

Author

Listed:
  • Peter E. Thijssen

    (Leiden University Medical Center)

  • Yuya Ito

    (Medical Institute of Bioregulation, Kyushu University)

  • Giacomo Grillo

    (CNRS UMR7216, Epigenetics and Cell Fate, Université Paris Diderot, Sorbonne Paris Cité)

  • Jun Wang

    (Leiden University Medical Center
    Present address: Institutes of Biology and Medical Sciences, Soochow University, Suzhou 215123, China)

  • Guillaume Velasco

    (CNRS UMR7216, Epigenetics and Cell Fate, Université Paris Diderot, Sorbonne Paris Cité)

  • Hirohisa Nitta

    (Medical Institute of Bioregulation, Kyushu University)

  • Motoko Unoki

    (Medical Institute of Bioregulation, Kyushu University)

  • Minako Yoshihara

    (Medical Institute of Bioregulation, Kyushu University)

  • Mikita Suyama

    (Medical Institute of Bioregulation, Kyushu University)

  • Yu Sun

    (Leiden University Medical Center
    Present address: Shanghai Institute for Pediatric Research, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.)

  • Richard J. L. F. Lemmers

    (Leiden University Medical Center)

  • Jessica C. de Greef

    (Leiden University Medical Center)

  • Andrew Gennery

    (Newcastle Upon Tyne Hospital, NHS Foundation Trust
    Institute of Cellular Medicine, Newcastle University)

  • Paolo Picco

    (G. Gaslini Scientific Institute)

  • Barbara Kloeckener-Gruissem

    (Institute of Medical Molecular Genetics, University of Zurich
    ETH Zurich)

  • Tayfun Güngör

    (University Children’s Hospital)

  • Ismail Reisli

    (Necmettin Erbakan University, Meram Medical Faculty)

  • Capucine Picard

    (Centre de Référence Déficits Immunitaires Héréditaires, AP-HP
    Centre d’Etude des Déficits Immunitaires, Hôpital Universitaire Necker-Enfants Malades, AP-HP
    Laboratoire de Génétique Humaine des Maladies Infectieuses, Inserm
    Université Paris Descartes, Institut Imagine, Sorbonne Paris)

  • Kamila Kebaili

    (Centre de Référence Déficits Immunitaires Héréditaires, Institut d’Hématologie et d’Oncologie Pédiatrique, CHU de Lyon)

  • Bertrand Roquelaure

    (Service d’hépato-gastro-entérologie et nutrition, endocrinologie et néphrologie pédiatriques, Hôpital de la Timone, CHU Marseille)

  • Tsuyako Iwai

    (Shikoku Medical Center for Children and adults)

  • Ikuko Kondo

    (Ooida Hospital)

  • Takeo Kubota

    (Faculty of Medicine, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi)

  • Monique M. van Ostaijen-Ten Dam

    (Laboratory for Immunology, Leiden University Medical Center)

  • Maarten J. D. van Tol

    (Laboratory for Immunology, Leiden University Medical Center)

  • Corry Weemaes

    (Radboud University Nijmegen Medical Center)

  • Claire Francastel

    (CNRS UMR7216, Epigenetics and Cell Fate, Université Paris Diderot, Sorbonne Paris Cité)

  • Silvère M. van der Maarel

    (Leiden University Medical Center)

  • Hiroyuki Sasaki

    (Medical Institute of Bioregulation, Kyushu University)

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.

Suggested Citation

  • 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 Gree, 2015. "Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome," Nature Communications, Nature, vol. 6(1), pages 1-8, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms8870
    DOI: 10.1038/ncomms8870
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    Cited by:

    1. Clara Cousu & Eléonore Mulot & Annie Smet & Sara Formichetti & Damiana Lecoeuche & Jianke Ren & Kathrin Muegge & Matthieu Boulard & Jean-Claude Weill & Claude-Agnès Reynaud & Sébastien Storck, 2023. "Germinal center output is sustained by HELLS-dependent DNA-methylation-maintenance in B cells," Nature Communications, Nature, vol. 14(1), pages 1-21, December.

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