doi: 10.1038/ng1992.
Epub 2007 Mar 4.
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
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- PMID: 17334363
- DOI: 10.1038/ng1992
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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
Nat Genet.
2007 Apr.
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.
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