title: Co-occurrence of Marfan syndrome and schizophrenia: what can be learned?
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.
authors.affiliation: Applied Molecular Genomics group, VIB Department of Molecular Genetics, VIB, Universiteisplein 1 building V, B-2610 Antwerp, Belgium. maarten.vandenbossche@molgen.vib-ua.be
authors.forename: Maarten J A
authors.initials: MJ
authors.lastname: Van Den Bossche
authors.forename: Kevin L P
authors.initials: KL
authors.lastname: Van Wallendael
authors.forename: Mojca
authors.initials: M
authors.lastname: Strazisar
authors.forename: Bernard
authors.initials: B
authors.lastname: Sabbe
authors.forename: Jurgen
authors.initials: J
authors.lastname: Del-Favero
mesh_terms: D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005838:Genotype; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012559:Schizophrenia / Q000150:complications / Q000235:genetics*; D055815:Young Adult; D054392:Adipokines
chemical_list: D018389:Codon, Nonsense; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines