A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome)
ABSTRACT Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R. A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome).
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.
- SourceAvailable from: John M Graham
- "Exclusion criteria include female sex, lack of intellectual disability, and autosomal patterns of inheritance. One family who met these criteria was found to carry a novel p. G958E mutation in MED12, with mild manifestations in carrier females [Rump et al., 2011]. "
Article: MED12 related disorders[Show abstract] [Hide abstract]
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