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

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

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  • 1Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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.

PMID:
17334363
[PubMed - indexed for MEDLINE]
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