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首页> 外文期刊>Case Reports in Genetics >A Novel Microduplication in the Neurodevelopmental GeneSRGAP3That Segregates with Psychotic Illness in the Family of a COS Proband
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A Novel Microduplication in the Neurodevelopmental GeneSRGAP3That Segregates with Psychotic Illness in the Family of a COS Proband

机译：神经发育基因SRGAP3中的新型微复制与COS先证者家族的精神病疾病隔离

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Schizophrenia is a debilitating mental disorder affecting approximately 1% of the world's population. Childhood onset schizophrenia (COS), defined as onset before age 13, is a rare and severe form of the illness that may have more salient genetic influence. We identified a ~134 kb duplication spanning exons 2–4 of theSlit-Robo GTPase-activating protein 3(SRGAP3) gene on chromosome 3p25.3 that tracks with psychotic illness in the family of a COS proband. Cloning and sequencing of the duplication junction confirmed that the duplication is tandem, and analysis of the resulting mRNA transcript suggests that the duplication would result in a frame shift mutation. This is the first family report of aSRGAP3copy number variant (CNV) in schizophrenia. Considering thatSRGAP3is important in neural development, we conclude that thisSRGAP3duplication may be an important factor contributing to the psychotic phenotype in this family.
机译：精神分裂症是一种使人衰弱的精神障碍，约占世界人口的1％。儿童发作性精神分裂症（COS），定义为在13岁之前发作，是一种罕见且严重的疾病形式，可能具有更明显的遗传影响。我们在染色体3p25.3上鉴定到一个跨越跨缝机器人GTPase激活蛋白3（SRGAP3）基因外显子2-4的〜134 kb复制，该基因跟踪COS先证者家族中的精神病。复制接头的克隆和测序证实该复制是串联的，对产生的mRNA转录本的分析表明该复制将导致移码突变。这是精神分裂症中aSRGAP3拷贝数变异（CNV）的第一个家族报告。考虑到SRGAP3在神经发育中很重要，我们得出结论，此SRGAP3重复可能是导致该家族精神病性表型的重要因素。

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