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Case Reports
. 2011 Feb;79(2):183-8.
doi: 10.1111/j.1399-0004.2010.01449.x.

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)

P Rump  1 , R C Niessen, K T Verbruggen, O F Brouwer, M de Raad, R Hordijk
Affiliations
Case Reports

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)

P Rump et al. Clin Genet. 2011 Feb.

Abstract

Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty-three affected males from 10 families with this mutation in the MED12 gene have been described so far. Here we report on a new family with three affected cousins, in which we identified a novel MED12 mutation (p.G958E). This is the first demonstration that other mutations in this gene can also lead to Opitz-Kaveggia syndrome. The clinical phenotype of these three new cases is reviewed in detail and compared with the previous reported cases.

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