A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

  • Nat Genet. 2007 Apr;39(4):451-3. doi: 10.1038/ng1992.
Hiba Risheg  1 ,  John M Graham Jr ,  Robin D Clark ,  R Curtis Rogers ,  John M Opitz ,  John B Moeschler ,  Andreas P Peiffer ,  Melanie May ,  Sumy M Joseph ,  Julie R Jones ,  Roger E Stevenson ,  Charles E Schwartz ,  Michael J Friez
Affiliations
  • 1. Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
PMID: 17334363 DOI: 10.1038/ng1992
Abstract

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.