Immunodeficiency–centromeric instability–facial anomalies syndrome
| 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
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
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
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 242860
- 1 2 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
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