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

@article{Risheg2007ARM,
  title={A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome},
  author={Hiba Risheg and J. Graham and R. Clark and R. C. Rogers and J. Opitz and J. Moeschler and Andreas Peiffer and M. May and Sumy M Joseph and J. Jones and R. Stevenson and C. Schwartz and M. Friez},
  journal={Nature Genetics},
  year={2007},
  volume={39},
  pages={451-453}
}
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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