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

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

Hiba Risheg  1 , 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
Affiliations

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

Hiba Risheg et al. 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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