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

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.

• Authors: Hiba Risheg, 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
• Journal: Nature genetics (Nat Genet) Vol. 39 Issue 4 Pg. 451-3 (Apr 2007) ISSN: 1061-4036 [Print] United States
• PMID: 17334363 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• 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)