A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome)
Article first published online: 14 APR 2010
© 2010 John Wiley & Sons A/S
Volume 79, Issue 2, pages 183–188, February 2011
How to Cite
Rump, P., Niessen, R., Verbruggen, K., Brouwer, O., de Raad, M. and Hordijk, R. (2011), A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome). Clinical Genetics, 79: 183–188. doi: 10.1111/j.1399-0004.2010.01449.x
- Issue published online: 14 APR 2010
- Article first published online: 14 APR 2010
- Received 22 February 2010, revised and accepted for publication 31 March 2010
- FG syndrome;
- multiple congenital anomalies;
- Kaveggia syndrome;
- X-linked mental retardation
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.