Van Den Bossche Maarten J A, Van Wallendael Kevin L P, Strazisar Mojca, Sabbe Bernard, Del-Favero Jurgen
Applied Molecular Genomics group, VIB Department of Molecular Genetics, VIB, Universiteisplein 1 building V, B-2610 Antwerp, Belgium.
Eur J Med Genet. 2012 Apr;55(4):252-5. doi: 10.1016/j.ejmg.2012.02.005. Epub 2012 Feb 22.
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.
我们报告了一名年轻女性患者，她因首次出现精神病症状而入住精神病院时被诊断为马凡综合征。对FBN1进行的突变分析发现了一个新生的无义突变（p.Glu178X）。这一发现意味着精神分裂症和马凡综合征同时出现，过去已有多次这样的报道。虽然这种同时出现可能是巧合，但有几个论据提供了有力证据，表明马凡综合征和精神分裂症可能共享共同的病因途径。鉴于精神分裂症的病因和马凡综合征的诊断，这一观察结果可能具有重要意义。
