Title
Co-occurrence of Marfan syndrome and schizophrenia : what can be learned? Co-occurrence of Marfan syndrome and schizophrenia : what can be learned?
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Paris ,
Subject
Human medicine
Source (journal)
European journal of medical genetics. - Paris
Volume/pages
55(2012) :4 , p. 252-255
ISSN
1769-7212
ISI
000307539700005
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
We report on a young female patient diagnosed with Marfan syndrome upon admission to the psychiatric hospital for a first psychosis. Mutation analysis of FBN1 identified a de novo nonsense mutation (p.Glu178X). This finding implies co-occurrence of schizophrenia and Marfan syndrome, an observation that has been reported several times in the past. Although, this co-occurrence can be coincidental, several arguments provide strong evidence that Marfan syndrome and schizophrenia might share common etiological pathways. This observation can be important in light of both the etiology of schizophrenia and the diagnosis of Marfan syndrome. (c) 2012 Elsevier Masson SAS. All rights reserved.
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