Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

Nat Commun. 2015 Jul 28:6:7870. doi: 10.1038/ncomms8870.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA Helicases / genetics*
  • Face / abnormalities*
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Infant
  • Male
  • Mutation
  • Mutation, Missense
  • Nuclear Proteins / genetics*
  • Primary Immunodeficiency Diseases
  • Young Adult

Substances

  • CDCA7 protein, human
  • Nuclear Proteins
  • DNA Helicases
  • HELLS protein, human

Supplementary concepts

  • Immunodeficiency syndrome, variable