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

Nature Communications - Tập 6 Số 1
Peter Thijssen1, Yuya Ito2, Giacomo Grillo3, Jun Wang1, Guillaume Velasco3, Hirohisa Nitta2, Motoko Unoki2, Minako Yoshihara4, Mikita Suyama4, Yu Sun1, Richard J.L.F. Lemmers1, Jessica C. de Greef1, Andrew R. Gennery5, Paolo Picco6, Barbara Kloeckener‐Gruissem7, Tayfun Güngör8, İsmail Reisli9, Capucine Pïcard10, Kamila Kébaïli11, Bertrand Roquelaure12, Tsuyako Iwai13, Ikuko Kondo14, Takeo Kubota15, Monique M. van Ostaijen-ten Dam16, Maarten J. D. van Tol16, Corry M.R. Weemaes17, Claire Francastel3, Silvère M. van der Maarel1, Hiroyuki Sasaki2
1Department of Human Genetics, Leiden University Medical Center, Leiden, 2333ZA, The Netherlands
2Division of Epigenomics and Development, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan
3CNRS UMR7216, Epigenetics and Cell Fate, Université Paris Diderot, Sorbonne Paris Cité, Paris, 75205, France
4Division of Bioinformatics, Department of Multi-scale Research Center for Medical Science, Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan
5Department of Paediatric Immunology, Newcastle Upon Tyne Hospital, NHS Foundation Trust, Newcastle Upon Tyne, UK
6Division of Pediatrics and Pediatric Rheumatology, G. Gaslini Scientific Institute, Genova, 16147, Italy
7Institute of Medical Molecular Genetics, University of Zurich, Schlieren, 8952, Switzerland
8Department of Oncology, University Children's Hospital, Zurich, 8032, Switzerland
9Department of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty, Konya, 42080, Turkey
10Centre de Référence Déficits Immunitaires Héréditaires, AP-HP, Paris, 75743, France
11Centre de Référence Déficits Immunitaires Héréditaires, Institut d'Hématologie et d'Oncologie Pédiatrique, CHU de Lyon, Lyon, 69008, France
12Service d'hépato-gastro-entérologie et nutrition, endocrinologie et néphrologie pédiatriques, Hôpital de la Timone, CHU Marseille, Marseille, 13385, France
13Department of Pediatric Hematology and Oncology, Shikoku Medical Center for Children and adults, Kagawa, 765-8507, Japan
14Department of Pediatrics, Ooida Hospital, Kochi, 788-0001, Japan
15Department of Epigenetic Medicine, Faculty of Medicine, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, 409-3898, Japan
16Department of Pediatrics, Laboratory for Immunology, Leiden University Medical Center, Leiden, 2333ZA, The Netherlands
17Department of Pediatric Infectious Diseases and Immunology, Radboud University Nijmegen Medical Center, Nijmegen, 6500HC, The Netherlands

Tóm tắt

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.

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Tập 6 Số 1

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