ArticleNature communications2015
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Erratum issuedOpen access · goldAbstract read
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Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 121 papers.
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121citing papers in PubMed
8.9field-weighted citation impact, top 2% of its field
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Who cites it
121 citing papers in PubMed, 208 citations in OpenAlex.
- Gene regulatory mechanisms downstream of DNA methylation.Nature reviews. Genetics · 2026Review
- Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.The Journal of clinical investigation · 2026Article
- Functional characterization of UHRF1 variants in facilitating DNA methylation.The Journal of biological chemistry · 2026Article
- Severe Ecthyma Gangrenosum in a Pediatric Patient With Neutropenia and a Novel HELLS Variant: Case Report.Clinical case reports · 2026Article
- CDCA7 targets LSH to DNA maintenance methylation in S phase and transcription regulation in interphase via two distinct DNA-binding modes.Nucleic acids research · 2026Article
- Structure of human lymphoid-specific helicase HELLS in its autoinhibited state.Nucleic acids research · 2026Article
- Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.Human molecular genetics · 2026Article
- Photoclick chemistry led to the identification of HELLS as a helicase for DNA G-quadruplexes.Nucleic acids research · 2026Article
- ICF syndrome: An epigenetic paradigm for primary immunodeficiencies.Journal of human immunity · 2026Review
- CDCA7 facilitates MET1-mediated CG DNA methylation maintenance in centromeric heterochromatin via linker histone H1.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Structure of human lymphoid-specific helicase HELLS in its autoinhibitory state.bioRxiv : the preprint server for biology · 2025Article
- Major alleles of CDCA7 shape CG methylation in Arabidopsis thaliana.Nature plants · 2025Article
- The chromatin regulator HELLS mediates SSB repair and responses to DNA alkylation damage.Nucleic acids research · 2025Article
- Dipping into the function of DNA methylation at centromeres.Nature genetics · 2025Article
- DNA methylation influences human centromere positioning and function.Nature genetics · 2025Article
- HELLS is required for maintaining proper DNA modification at human satellite repeats.Genome biology · 2025Article
- The ZBTB24-CDCA7-HELLS axis suppresses the totipotent 2C-like reprogramming by maintaining Dux methylation and repression.Nucleic acids research · 2025Article
- HELLS controls mitochondrial dynamics and genome stability in liver cancer by collusion with MIEF1.Cell death & disease · 2025Article
- Spatiotemporal dynamics of the developing zebrafish enteric nervous system at the whole-organ level.Developmental cell · 2025Article
- The Role of the DNA Methyltransferase Family and the Therapeutic Potential of DNMT Inhibitors in Tumor Treatment.Current oncology (Toronto, Ont.) · 2025Review
61 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
29 authors at 16 institutions in 8 countries.
Peter E ThijssenDepartment of Human Genetics, Leiden University Medical Center, Leiden 2333ZA, The Netherlands.
Yuya ItoDivision of Epigenomics and Development, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan.
Giacomo GrilloCNRS UMR7216, Epigenetics and Cell Fate, Université Paris Diderot, Sorbonne Paris Cité, 75205 Paris, France.
Jun WangDepartment of Human Genetics, Leiden University Medical Center, Leiden 2333ZA, The Netherlands.
Guillaume VelascoCNRS UMR7216, Epigenetics and Cell Fate, Université Paris Diderot, Sorbonne Paris Cité, 75205 Paris, France.
Hirohisa NittaDivision of Epigenomics and Development, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan.
Motoko UnokiDivision of Epigenomics and Development, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan.
Minako YoshiharaDivision of Bioinformatics, Department of Multi-scale Research Center for Medical Science, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan.
Mikita SuyamaDivision of Bioinformatics, Department of Multi-scale Research Center for Medical Science, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan.
Yu SunDepartment of Human Genetics, Leiden University Medical Center, Leiden 2333ZA, The Netherlands.
Richard J L F LemmersDepartment of Human Genetics, Leiden University Medical Center, Leiden 2333ZA, The Netherlands.
Jessica C de GreefDepartment of Human Genetics, Leiden University Medical Center, Leiden 2333ZA, The Netherlands.
Andrew Gennery1] Department of Paediatric Immunology, Newcastle Upon Tyne Hospital, NHS Foundation Trust, Newcastle Upon Tyne, UK [2] Institute of Cellular Medicine, Newcastle University, Newcastle Upon Tyne NE1 4LP, UK.
Paolo PiccoDivision of Pediatrics and Pediatric Rheumatology, G. Gaslini Scientific Institute, Genova 16147, Italy.
Barbara Kloeckener-Gruissem1] Institute of Medical Molecular Genetics, University of Zurich, Schlieren 8952, Switzerland [2] Department of Biology, ETH Zurich, Zurich 8093, Switzerland.
Tayfun GüngörDepartment of Oncology, University Children's Hospital, Zurich 8032, Switzerland.
Ismail ReisliDepartment of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty, Konya 42080, Turkey.
Capucine Picard1] Centre de Référence Déficits Immunitaires Héréditaires, AP-HP, 75743 Paris, France [2] Centre d'Etude des Déficits Immunitaires, Hôpital Universitaire Necker-Enfants Malades, AP-HP, 75743 Paris, France [3] Laboratoire de Génétique Humaine des Maladies Infectieuses, Inserm, 75743, Paris, France [4] Université Paris Descartes, Institut Imagine, Sorbonne Paris, 75743 Paris, France [5] Unité d'immunologie et d'hématologie pédiatrique, Hôpital Necker-Enfants Malades, 75743, Paris, France [6] Inserm UMR 768, 75015 Paris, France.
Kamila KebailiCentre de Référence Déficits Immunitaires Héréditaires, Institut d'Hématologie et d'Oncologie Pédiatrique, CHU de Lyon, 69008 Lyon, France.
Bertrand RoquelaureService d'hépato-gastro-entérologie et nutrition, endocrinologie et néphrologie pédiatriques, Hôpital de la Timone, CHU Marseille, 13385 Marseille, France.
Tsuyako IwaiDepartment of Pediatric Hematology and Oncology, Shikoku Medical Center for Children and adults, Kagawa 765-8507, Japan.
Ikuko KondoDepartment of Pediatrics, Ooida Hospital, Kochi 788-0001, Japan.
Takeo KubotaDepartment of Epigenetic Medicine, Faculty of Medicine, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi 409-3898, Japan.
Monique M van Ostaijen-Ten DamDepartment of Pediatrics, Laboratory for Immunology, Leiden University Medical Center, Leiden 2333ZA, The Netherlands.
Maarten J D van TolDepartment of Pediatrics, Laboratory for Immunology, Leiden University Medical Center, Leiden 2333ZA, The Netherlands.
Corry WeemaesDepartment of Pediatric Infectious Diseases and Immunology, Radboud University Nijmegen Medical Center, Nijmegen 6500HC, The Netherlands.
Claire FrancastelCNRS UMR7216, Epigenetics and Cell Fate, Université Paris Diderot, Sorbonne Paris Cité, 75205 Paris, France.
Silvère M van der MaarelDepartment of Human Genetics, Leiden University Medical Center, Leiden 2333ZA, The Netherlands.
Hiroyuki SasakiDivision of Epigenomics and Development, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan.
Leiden University Medical Center · NLKyushu University · JPSorbonne Paris Cité · FREpigénétique et Destin Cellulaire · FRHôpital de la Timone · FRInserm · FRInstitut d’Hématologie et d’Oncologie Pédiatrique · FRIstituto Giannina Gaslini · ITNecmettin Erbakan University · TRNewcastle upon Tyne Hospitals NHS Foundation Trust · GBOida Hospital · JPRadboud University Medical Center · NLShikoku Medical Center for Children and Adults · JPUniversity Children's Hospital Zurich · CHUniversity of Yamanashi · JPUniversity of Zurich · CH
Funding
Identification of the gene defect underlying ICF2 syndromeR21AI090135 · NIAID · LEIDEN UNIVERSITY MEDICAL CENTER · PI VAN DER MAAREL, SILVERE M · 2010 to 2011
$262kNIAID NIH HHS R21 AI090135
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.
Indexed as
AdolescentAdultChildChild, PreschoolDNA HelicasesFaceFemaleHumansImmunologic Deficiency SyndromesInfantMaleMutationMutation, MissenseNuclear ProteinsPrimary Immunodeficiency DiseasesYoung AdultCDCA7 protein, humanDNA HelicasesHELLS protein, humanNuclear Proteins
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.