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GENATLAS PHENOTYPE
last update : 02-01-2019
Symbol ICF2
Location 6q22.1
Name immunodeficiency, centromeric instability, and facial anomalies syndrome 2
Corresponding gene ZBTB24
Main clinical features
  • same immunological and epigenetic features, including hypomethylation of juxtacentromeric repeat sequences than ICF
  • recurrent, often fatal, respiratory and gastrointestinal infections ( PMID: 21596365))
  • developmental delay, facial anomalies, cytogenetic defects and immunodeficiency with a reduction in serum immunoglobulin levels
  • significantly higher incidence of intellectual disability and mental retardation, than ICF
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Remark(s)
  • ZBTB24 is involved in DNA methylation of juxtacentromeric DNA and in B cell development and/or B and T cell interactions; about 50p100 of patients carry mutations in the DNA methyltransferase 3B gene (DNMT3B) (ICF1)
  • ZBTB24, CDCA7 and HELLS mutations affect CpG-poor regions with heterochromatin features (PMID: 29659838))