A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome by Risheg Hiba, Graham John M, Clark Robin D, Rogers R Curtis, Opitz John M, Moeschler John B, Peiffer Andreas P, May Melanie, Joseph Sumy M, Jones Julie R, Stevenson Roger E, Schwartz Charles E, Friez Michael J in Nature genetics (2007).

[PMID: 17334363] PubMed


Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in MED12 (also called TRAP230 or HOPA), a gene located at Xq13 that functions as a thyroid receptor-associated protein in the Mediator complex.

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