Friday 5 October 2007
germline mutation in MED12 (also called TRAP230 or HOPA) (FGS1)
- Opitz-Kaveggia syndrome (also known as FG syndrome) (MIM.305450) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.
- Lujan-Fryns syndrome (MIM.309520)
variants in susceptibility to mental retardation
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