Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2


van den Boogaard M. L. , Thijssen P. E. , Aytekin C., Licciardi F., Kiykim A. A. , Spossito L., ...More

CLINICAL GENETICS, vol.92, no.4, pp.380-387, 2017 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Article
  • Volume: 92 Issue: 4
  • Publication Date: 2017
  • Doi Number: 10.1111/cge.12979
  • Title of Journal : CLINICAL GENETICS
  • Page Numbers: pp.380-387

Abstract

BackgroundImmunodeficiency, 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 (HELLS mutations).