由WES-CNV检测到的同时发生的12p三症和4q34.2-q35.2删除:病例报告
Xiaoyu Sun1, Shuangzhu Lin, Wanqi Wang
1College of Traditional Chinese Medicine, Changchun University of Chinese Medicine, Changchun, Jilin Province, China.
Medicine
|February 3, 2026
概括
这项研究报告了一例罕见的同时出现12p三症和4q缺失的病例,该病例发生在患有全球发育迟缓 (GDD) 的儿童身上. 整体外因子测序确定了这些双复制数变异,导致严重的表型并突出了先进的诊断能力.
科学领域:
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
- 临床医学 临床医学
背景情况:
- 发育迟缓的遗传诊断具有挑战性,特别是在正常的型中.
- 三胞体12p综合征涉及关键基因剂量效应 (例如,KRAS,ETV6),影响神经发育和骨发生.
- KRAS和ETV6的重复可以破坏信号通路和胚胎发育,导致综合征表型.
研究的目的:
- 在全球发育迟缓的患者中报告一个同时出现12p三症和4q删除的独特病例.
- 调查双复制数变体对表型表现的协同效应.
- 为了证明整个外因组测序在诊断复杂的基因组疾病中的实用性.
主要方法:
- 一个21个月大的男孩的全球发育迟缓被评估.
- 整体外基因组测序发现了染色体12p上的35.8 Mb的重复,以及在4q34.2-q35.2.2的14.39 Mb的删除.
- 实施了一个多学科的管理计划,包括物理治疗和整形.
主要成果:
- 该患者出现了严重的面和上肢形,以及全球发育迟缓.
- 经过干预,孩子能够独立坐着,上肢功能得到改善.
- 尽管功能改善,但部长度没有显著变化.
结论:
- 双重的,被认为是de novo的副本数变异 (12p三症和4q删除) 可以表现出协同致病.
- 综合的异常导致一种比单独的异常更严重的表型 (胸膜异常,GDD).
- 基于全外因组测序的副本数变异分析对于诊断复杂的基因组疾病是优越的,为综合征发育迟缓提供了一种新型模型.
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