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 Roquelaure, Tsuyako 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 () and Hiroyuki Sasaki ()
Additional contact information
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
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
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
Paolo Picco: G. Gaslini Scientific Institute
Barbara Kloeckener-Gruissem: Institute of Medical Molecular Genetics, University of 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
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

Nature Communications, 2015, vol. 6, issue 1, 1-8

Abstract: 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.

Date: 2015
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DOI: 10.1038/ncomms8870

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