Co-occurrence of Marfan syndrome and schizophrenia: What can be learned?

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• 作者：Maarten J.A. Van Den Bossche^a ; ^b ; ^c ; ¹ ; ^{maarten.vandenbossche@molgen.vib-ua.be} ; Kevin L.P. Van Wallendael^d ; ¹ ; ^{vanwallendael.kevin@gmail.com} ; Mojca Strazisar^a ; ^b ; ^{mojca.strazisar@molgen.vib-ua.be} ; Bernard Sabbe^b ; ^c ; ^d ; ^{bernard.sabbe@ua.ac.be} ; Jurgen Del-Favero^a ; ^b ; ^{jurgen.delfavero@molgen.vib-ua.be}
• 关键词：Marfan syndrome ; Schizophrenia ; FBN1 ; TGF-¦Â
• 刊名：European Journal of Medical Genetics
• 出版年：2012
• 出版时间：April, 2012
• 年：2012
• 卷：55
• 期：4
• 页码：252-255
• 全文大小：131 K

文摘

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.