Immunodeficiency–centromeric instability–facial anomalies syndrome
ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome)[1] is a very rare autosomal recessive[2] immune disorder.
Characteristics
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
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] This means the defective gene responsible for the disorder is located on an autosome (chromosome 20 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
See also
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 242860
- ^ 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.
- ^ 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.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 602900
External links
- Orphanet Journal of Rare Diseases link to ICF syndrome [1]