Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

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dc.contributor.authorWeemaes, Corry M. R.
dc.contributor.authorvan Tol, Maarten J. D.
dc.contributor.authorWang, Jun
dc.contributor.authorvan Ostaijen-ten Dam, Monique M.
dc.contributor.authorvan Eggermond, Marja C. J. A.
dc.contributor.authorThijssen, Peter E.
dc.contributor.authorAytekin, Caner
dc.date.accessioned2024-02-23T14:16:39Z
dc.date.available2024-02-23T14:16:39Z
dc.date.issued2013
dc.departmentNEÜen_US
dc.description.abstractImmunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a primary immunodeficiency, predominantly characterized by agammaglobulinemia or hypoimmunoglobulinemia, centromere instability and facial anomalies. Mutations in two genes have been discovered to cause ICF syndrome: DNMT3B and ZBTB24. To characterize the clinical features of this syndrome, as well as genotype-phenotype correlations, we compared clinical and genetic data of 44 ICF patients. Of them, 23 had mutations in DNMT3B (ICF1), 13 patients had mutations in ZBTB24 (ICF2), whereas for 8 patients, the gene defect has not yet been identified (ICFX). While at first sight these patients share the same immunological, morphological and epigenetic hallmarks of the disease, systematic evaluation of all reported informative cases shows that: (1) the humoral immunodeficiency is generally more pronounced in ICF1 patients, (2) B- and T-cell compartments are both involved in ICF1 and ICF2, (3) ICF2 patients have a significantly higher incidence of intellectual disability and (4) congenital malformations can be observed in some ICF1 and ICF2 cases. It is expected that these observations on prevalence and clinical presentation will facilitate mutation-screening strategies and help in diagnostic counseling.en_US
dc.description.sponsorshipNational Institute of Allergy and Infectious Diseases (NIAID) [AI090135]en_US
dc.description.sponsorshipWe thank all ICF families for their participation in this study. This study was supported by the National Institute of Allergy and Infectious Diseases (NIAID: AI090135).en_US
dc.identifier.doi10.1038/ejhg.2013.40
dc.identifier.endpage1225en_US
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.issue11en_US
dc.identifier.pmid23486536en_US
dc.identifier.scopus2-s2.0-84885945266en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1219en_US
dc.identifier.urihttps://doi.org/10.1038/ejhg.2013.40
dc.identifier.urihttps://hdl.handle.net/20.500.12452/12749
dc.identifier.volume21en_US
dc.identifier.wosWOS:000325861500008en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofEuropean Journal Of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectIcf Syndromeen_US
dc.subjectDnmt3ben_US
dc.subjectZbtb24en_US
dc.subjectGenotype-Phenotypeen_US
dc.titleHeterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defectsen_US
dc.typeArticleen_US

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