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

被引：0

作者：

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

Hiroyuki Sasaki

机构：

[1] Leiden University Medical Center,Department of Human Genetics

[2] Medical Institute of Bioregulation,Division of Epigenomics and Development, Department of Molecular Genetics

[3] Kyushu University,Division of Bioinformatics, Department of Multi

[4] CNRS UMR7216,scale Research Center for Medical Science

[5] Epigenetics and Cell Fate,Department of Paediatric Immunology

[6] Université Paris Diderot,Division of Pediatrics and Pediatric Rheumatology

[7] Sorbonne Paris Cité,Department of Biology

[8] Medical Institute of Bioregulation,Department of Oncology

[9] Kyushu University,Department of Pediatric Immunology and Allergy

[10] Newcastle Upon Tyne Hospital,Department of Pediatric Hematology and Oncology

[11] NHS Foundation Trust,Department of Pediatrics

[12] Institute of Cellular Medicine,Department of Epigenetic Medicine

[13] Newcastle University,Department of Pediatrics

[14] G. Gaslini Scientific Institute,Department of Pediatric Infectious Diseases and Immunology

[15] Institute of Medical Molecular Genetics,undefined

[16] University of Zurich,undefined

[17] ETH Zurich,undefined

[18] University Children’s Hospital,undefined

[19] Necmettin Erbakan University,undefined

[20] Meram Medical Faculty,undefined

[21] Centre de Référence Déficits Immunitaires Héréditaires,undefined

[22] AP-HP,undefined

[23] Centre d’Etude des Déficits Immunitaires,undefined

[24] Hôpital Universitaire Necker-Enfants Malades,undefined

[25] AP-HP,undefined

[26] Laboratoire de Génétique Humaine des Maladies Infectieuses,undefined

[27] Inserm,undefined

[28] Université Paris Descartes,undefined

[29] Institut Imagine,undefined

[30] Sorbonne Paris,undefined

[31] Unité d'immunologie et d’hématologie pédiatrique,undefined

[32] Hôpital Necker-Enfants Malades,undefined

[33] Inserm UMR 768,undefined

[34] Centre de Référence Déficits Immunitaires Héréditaires,undefined

[35] Institut d’Hématologie et d’Oncologie Pédiatrique,undefined

[36] CHU de Lyon,undefined

[37] Service d’hépato-gastro-entérologie et nutrition,undefined

[38] endocrinologie et néphrologie pédiatriques,undefined

[39] Hôpital de la Timone,undefined

[40] CHU Marseille,undefined

[41] Shikoku Medical Center for Children and adults,undefined

[42] Ooida Hospital,undefined

[43] Faculty of Medicine,undefined

[44] Interdisciplinary Graduate School of Medicine and Engineering,undefined

[45] University of Yamanashi,undefined

[46] Laboratory for Immunology,undefined

[47] Leiden University Medical Center,undefined

[48] Radboud University Nijmegen Medical Center,undefined

[49] Present address: Institutes of Biology and Medical Sciences,undefined

[50] Soochow University,undefined

来源：

Nature Communications | / 6卷

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摘要：

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.

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