8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report.
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report.
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DOI：
10.1155/2018/3871425
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发表时间：
2018
影响因子：
0.8
通讯作者：
Di Rosa G
中科院分区：
文献类型：
--
作者：
Gagliano A;Pironti E;Cucinotta F;Galati C;Maggio R;Alquino MA;Di Rosa G
染色体8q22.1的微重复主要与Leri's pleonosteosis综合征表型相关，这是一种非常罕见的常染色体显性疾病，包括GDF6和SDC2基因。迄今为止，大多数作者只关注疾病的骨骼症状，他们没有系统地研究或描述精神疾病或精神障碍与这些肌肉骨骼疾病的共同发生。在这份报告中，我们提供了一个8岁的女孩，有积极的家族史，骨骼畸形和双相情感障碍（BD）的描述。我们认为，Leri的pleonosteosis功能和精神症状之间可能存在关联。此外，我们的报告可以添加到大量描述精神疾病和风湿病遗传区域与疾病风险之间相关性的报告中。
Microduplication of chromosome 8q22.1 is mainly associated to Leri's pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not systematically research or describe the co-occurrence of psychiatric illnesses or mental disorders with these muscular-skeletal diseases. In this report, we provide a description of an 8-year-old girl, with a positive family history for both skeletal malformations and bipolar disorders (BD). We suggest a possible association between Leri's pleonosteosis features and psychiatric symptoms. Furthermore, our report could be added to the large amount of reports that describe the correlation between genetic regions and disease risk for both psychiatric and rheumatological disorders.