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

Authors
  • Rump, P1
  • Niessen, R C
  • Verbruggen, K T
  • Brouwer, O F
  • de Raad, M
  • Hordijk, R
  • 1 Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. [email protected] , (Netherlands)
Type
Published Article
Journal
Clinical Genetics
Publisher
Wiley (Blackwell Publishing)
Publication Date
Feb 01, 2011
Volume
79
Issue
2
Pages
183–188
Identifiers
DOI: 10.1111/j.1399-0004.2010.01449.x
PMID: 20507344
Source
Medline
License
Unknown

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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