一个新的基因型-表型之间持久的cloaca相关的VACTERL和8p23和12q23.1的突变
Yue Li1, Peiqi Liu1, Weilin Wang1
1Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China.
Pediatric research
|December 22, 2023
概括
一个涉及8p23删除和12q23.1重复的新型拷贝数变异 (CNV) 在患有直肠形 (ARMs) 相关的VACTERL关联的患者中被确定. 这一发现有助于进一步了解VACTERL综合征的遗传基础.
科学领域:
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
- 医学遗传学 医学遗传学
背景情况:
- 背后的VACTERL (脊椎缺陷,门缩,心脏缺陷,气管-食道,脏和四肢异常) 关联的遗传机制,特别是与直肠形 (ARM) 相关联时,仍然在很大程度上是未知的.
- 复制数变异 (CNV) 越来越多地被认为是复杂遗传疾病的致病性的主要贡献者,如VACTERL协会.
研究的目的:
- 报告一个与ARM相关的VACTERL关联的新案例.
- 识别和描述受影响个体中存在的特定拷贝数变异.
- 为了解VACTERL综合征中的基因型-表型相关性做出贡献.
主要方法:
- 一个12岁的女孩患有水,隔离的脏和持续的左上静脉的案例研究.
- 使用数组比较基因组杂交 (aCGH) 的基因组分析.
- 对涉及CNVs,VACTERL,8p23删除和12q23.1重复的现有病例的文献综述.
主要成果:
- 在病人的基因组中,在8p23.1-23.3发现了9.6Mb的删除,在12q23.1发现了0.52Mb的重复.
- 该患者呈现出复杂的表型,包括沟形和发育迟缓.
- 这一案例代表了第一个与ARM相关的VACTERL与8p23和12q23.1.1.两个同步的CNV相关的案例.
结论:
- 确定的8p23.1-23.3删除和12q23.1重复是ARM相关VACTERL关联患者的新遗传发现.
- 这些CNV可能在观察到的VACTERL表型中发挥作用,包括形形.
- 这一案例扩大了与VACTERL综合征相关的已知遗传变异的范围,并强调了CNV分析的重要性.
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