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

Nat Genet. 2007 Apr;39(4):451-3. doi: 10.1038/ng1992. Epub 2007 Mar 4.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics
  • Arginine / genetics
  • Family
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Mediator Complex
  • Muscle Hypotonia / genetics
  • Mutation*
  • Pedigree
  • Receptors, Thyroid Hormone / genetics*
  • Syndrome
  • Tryptophan / genetics

Substances

  • MED12 protein, human
  • Mediator Complex
  • Receptors, Thyroid Hormone
  • Tryptophan
  • Arginine