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- Title
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
- Authors
Risheg, Hiba; Graham Jr., 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.
- 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.
- Subjects
GENETIC disorders; INTELLECTUAL disabilities; CONSTIPATION; GENETIC mutation; THYROID diseases; GENETIC polymorphisms; GENETICS
- Publication
Nature Genetics, 2007, Vol 39, Issue 4, p451
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1992