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A Recurrent Mutation in MED12 Leading to R961W Causes Opitz-Kaveggia Syndrome

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A Recurrent Mutation in MED12 Leading to R961W Causes Opitz-Kaveggia Syndrome

Hiba Risheg et al. Nat Genet.

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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