Immunodeficiency–centromeric instability–facial anomalies syndrome

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ICF syndrome
Classification and external resources
OMIM 242860
DiseasesDB 32366

ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome)[1] is a very rare autosomal recessive[2] immune disorder.

Characteristics[edit]

It is characterized by variable reductions in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood. ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia.

Genetics[edit]

Immunodeficiency–centromeric instability–facial anomalies syndrome has an autosomal recessive pattern of inheritance.

ICF syndrome can be caused by a mutation in the DNA-methyltransferase-3b (Dnmt3b) gene, located on chromosome 20q11.2.[3][4] The disease is inherited in an autosomal recessive manner.[2]

See also[edit]

References[edit]

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 242860
  2. ^ a b Brown, Dc; Grace, E; Sumner, At; Edmunds, At; Ellis, Pm (October 1995). "ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome". Human Genetics 96 (4): 411–6. doi:10.1007/BF00191798. PMID 7557962. 
  3. ^ Jiang, Yl; Rigolet, M; Bourc'His, D; Nigon, F; Bokesoy, I; Fryns, Jp; Hultén, M; Jonveaux, P; Maraschio, P; Mégarbané, A; Moncla, A; Viegas-Péquignot, E (January 2005). "DNMT3B mutations and DNA methylation defect define two types of ICF syndrome". Human Mutation 25 (1): 56–63. doi:10.1002/humu.20113. PMID 15580563. 
  4. ^ Online 'Mendelian Inheritance in Man' (OMIM) 602900

External links[edit]

  • Orphanet Journal of Rare Diseases link to ICF syndrome [1]