Document Detail


A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
MedLine Citation:
PMID:  20507344     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
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.
Authors:
P Rump; R C Niessen; K T Verbruggen; O F Brouwer; M de Raad; R Hordijk
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  79     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-01-07     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  183-8     Citation Subset:  IM    
Copyright Information:
© 2010 John Wiley & Sons A/S.
Affiliation:
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. p.rump@medgen.umcg.nl
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