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MED12 and Opitz-Kaveggia Syndrome 

MED12 and Opitz-Kaveggia Syndrome
Chapter:
MED12 and Opitz-Kaveggia Syndrome
Author(s):

Michael J. Lyons

DOI:
10.1093/med/9780199934522.003.0138
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date: 27 February 2021

Opitz-Kaveggia syndrome is a rare cause of X-linked intellectual disability and associated anomalies in males due to a mutation in the MED12 gene located at chromosome Xq13. The MED12 gene encodes the MED12 protein which is part of the Mediator complex. Mediator is involved in transcriptional activation and repression. The clinical diagnosis of Opitz-Kaveggia syndrome can be made based on the recognition of typical clinical features including macrocephaly, tall forehead, downslanting palpebral fissures, small simple ears, constipation and/or anorectal anomalies, broad thumbs and halluces, abnormalities of the corpus callosum, intellectual disability, hypotonia, and characteristic behavior. An algorithm based on clinical features has been devised to help guide the decision to pursue molecular testing of the MED12 gene. A diagnosis of Opitz-Kaveggia syndrome can be confirmed by identification of a mutation in the MED12 gene. Most affected individuals have been found to have a recurrent p.R961W mutation which leads to protein conformation changes. A p.G958E mutation has been found to cause Opitz-Kaveggia syndrome in one family. A recurrent p.N1007S mutation in the MED12 gene causes Lujan syndrome which is a distinct disorder. A 12 base pair insertion in the MED12 gene has been associated with an increased risk for schizophrenia.

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