Article
Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.
Clinical genetics - 1 Oct 2017
van den Boogaard M L, Thijssen P E, Aytekin C, Licciardi F, Kıykım A A, Spossito L, Dalm V A S H, Driessen G J, Kersseboom R, de Vries F, van Ostaijen-Ten Dam M M, Ikinciogullari A, Dogu F, Oleastro M, Bailardo E, Daxinger L, Nain E, Baris S, van Tol M J D, Weemaes C, van der Maarel S M
Abstract excerpt
BACKGROUND: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare, genetically heterogeneous, autosomal recessive disorder. Patients suffer from recurrent infections caused by reduced levels or absence of serum immunoglobulins. Genetically, 4 subtypes of ICF syndrome have been identified to date: ICF1 (DNMT3B mutations), ICF2 (ZBTB24 mutations), ICF3 (CDCA7 mutations), and ICF4...
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