Gregoric Kumperscak Hojka, Krgovic Danijela, Drobnic Radobuljac Maja, Senica Nina, Zagorac Andreja, Kokalj Vokac Nadja
Department of Pediatrics, University Medical Center Maribor, Maribor, Slovenia.
Medical Faculty, University of Maribor, Maribor, Slovenia.
Front Psychiatry. 2021 Jan 12;11:606372. doi: 10.3389/fpsyt.2020.606372. eCollection 2020.
Early-onset schizophrenia (EOS) and bipolar disorder (EOB) start before the age of 18 years and have a more severe clinical course, a worse prognosis, and a greater genetic loading compared to the late-onset forms. Copy number variations (CNVs) are an important genetic factor in the etiology of psychiatric disorders. Therefore, this study aimed to analyze CNVs in patients with EOS and EOB and to establish genotype-phenotype relationships for contiguous gene syndromes or genes affected by identified CNVs. Molecular karyotyping was performed in 45 patients, 38 with EOS and seven with EOB hospitalized between 2010 and 2017. The exclusion criteria were medical or neurological disorders or IQ under 70. Detected CNVs were analyzed according to the standards and guidelines of the American College of Medical Genetics. Molecular karyotyping showed CNVs in four patients with EOS (encompassing the , and genes, and the 16p11.2 microduplication syndrome) and in two patients with EOB (encompassing the and genes). In one patient with EOB, a chromosomal aneuploidy 47, XYY was found. Our study is the first study of CNVs in EOS and EOB patients in Slovenia. Our findings support the association of the , and genes with schizophrenia and/or bipolar disorder. To our knowledge, this is also the first report of a multiplication of the gene and the smallest deletion of the gene in a patient with EOS, and one of the few reports of the 47, XYY karyotype in a patient with EOB.
早发性精神分裂症（EOS）和早发性双相情感障碍（EOB）在18岁之前起病，与晚发性形式相比，具有更严重的临床病程、更差的预后和更高的遗传负荷。拷贝数变异（CNV）是精神疾病病因学中的一个重要遗传因素。因此，本研究旨在分析EOS和EOB患者的CNV，并建立连续基因综合征或受已识别CNV影响的基因的基因型-表型关系。对2010年至2017年期间住院的45例患者进行了分子核型分析，其中38例为EOS患者，7例为EOB患者。排除标准为内科或神经疾病或智商低于70。根据美国医学遗传学学院的标准和指南对检测到的CNV进行分析。分子核型分析显示，4例EOS患者存在CNV（包括 、 和 基因，以及16p11.2微重复综合征），2例EOB患者存在CNV（包括 和 基因）。在1例EOB患者中，发现了染色体非整倍体47，XYY。我们的研究是斯洛文尼亚首次对EOS和EOB患者的CNV进行的研究。我们的发现支持了 、 和 基因与精神分裂症和/或双相情感障碍的关联。据我们所知，这也是EOS患者中 基因倍增和 基因最小缺失的首次报告，以及EOB患者中47，XYY核型的少数报告之一。
