Friday 5 October 2007
Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.
Several loci for the FG syndrome have been mapped to the X chromosome: FGS1 (OKS) to Xq12-q21.31 (MIM.305450), FGS2 (MIM.300321) to Xq28, FGS3 (MIM.300406) to Xp22.3, FGS4 (MIM.300422) to Xp11.4-p11.3, and FGS5 (MIM.300581) to Xq22.3.
germline mutation in MED12 (also called TRAP230 or HOPA) (FGS1)
- MED12 is a gene located at Xq13 that functions as a thyroid receptor-associated protein in the Mediator complex.
thyroid hormone receptor-associated proteins (TRAPs)
Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007 Apr;39(4):451-3. PMID: 17334363