俄罗斯患有自闭症谱系障碍的儿童的单基性缺陷
Evgeny N Suspitsin1,2, Kristina S Malysheva1, Sergey A Laptiev1
1Department of Medical Genetics, Saint-Petersburg State Pediatric Medical University, Saint-Petersburg 194100, Russia.
World journal of clinical pediatrics
|November 19, 2025
概括
罕见的遗传变异是俄罗斯儿童自闭症谱系障碍 (ASD) 的重要原因. 临床外基因组测序有效地识别了这些变异,突出了ASD背后的遗传多样性.
科学领域:
- 遗传学 是一个遗传学.
- 神经发育障碍 神经发育障碍
- 儿科 儿科 儿科
背景情况:
- 自闭症谱系障碍 (ASD) 影响全球超过1%的儿童,经常与智力障碍和言语迟缓同时发生.
- 自闭症的高度异质性和表型重叠在确定特定的遗传决定因素方面提出了挑战.
- 了解自闭症的遗传基础对于诊断和潜在的治疗策略至关重要.
研究的目的:
- 在俄罗斯儿科队列中调查ASD相关基因中罕见遗传变异的频谱和频率.
- 确定导致ASD的单一原因和未知意义的变异,这些变异有助于ASD.
- 评估临床外基因组测序在诊断ASD遗传原因方面的有用性.
主要方法:
- 招募了110名患有自闭症症的患者 (106个家庭),主要是同时出现发育迟缓或智力障碍.
- 对于具有综合征特征的患者,利用染色体微阵列分析.
- 在剩余的患者身上进行临床外基因组测序,重点关注高可信度ASD相关基因的罕见变异 (MAF ≤ 0.001).
主要成果:
- 在7%的患者中发现了致病性拷贝数变异.
- 临床外基因组测序在11%的病例中检测到致病性/可能致病性变体,揭示了各种单一性综合征.
- 在26%的患者中发现了许多与ASD相关的基因的罕见变异,其中包括*TRIP12*, *AUTS2*, *ARID1B*, *PCDH19* 和 *EP300* 中的复发变异.
- 证实,有 *PCDH19* 变异的半身的男性可以表现出神经行为异常.
结论:
- 自闭症的遗传原因非常多样,这凸显了这些神经发育障碍的复杂性.
- 临床外因子测序是ASD的宝贵诊断工具,为全外因子测序提供了可行的替代方案.
- 对未知意义的变异进行进一步的研究是有必要的,以阐明它们在ASD病原发生中的作用.
关键词:
自闭症 自闭症 自闭症自闭症谱系障碍 自闭症谱系障碍染色体微阵列是一个微阵列.发育迟缓的发展延迟高通量测序的高通量测序智力障碍 智力障碍是一种智力障碍.精神障碍 精神障碍是一种精神障碍.突变突变是一种突变.神经发育障碍 神经发育障碍在PCDH19中,更多相关视频
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