Immunodeficiency-centromeric instability-facial anomalies syndrome

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Immunodeficiency-centromeric instability-facial anomalies syndrome is characterised by[1][2]:
  • Autosomal recessive transmission
  • Agammaglobulinaemia or hypoimmunoglobulinaemia
  • Centromere instability
  • Facial anomalies:
    • Hypertelorism
    • Flat nasal bridge
    • Epicanthus

It can be caused by several mutations of genes whose products are involved in mitosis including:

  1. Immunodeficiency-centromeric instability-facial anomalies syndrome-1 (OMIM:242860) caused by mutations in DNMT3B gene on chromosome 20q11.2 encoding DNA methyltransferase-3B
  2. Immunodeficiency-centromeric instability-facial anomalies syndrome-2 (OMIM:614069) caused by mutations in ZBTB24 gene on chromosome 6q21 encoding zinc finger and BTB domain-containing protein 24
  3. Immunodeficiency-centromeric instability-facial anomalies syndrome-3 (OMIM:616910) caused by mutations in CDCA7 gene on chromosome 2q31.1 encoding cell division cycle-associated protein 7
  4. Immunodeficiency-centromeric instability-facial anomalies syndrome-4 (OMIM:616911) caused by mutations in HELLS gene on chromosome 10q23.3 encoding lymphoid-specific helicase

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