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MYH11复杂的基因型-表型相关性:来自单胞胎双胞胎的新见解,表达力和结果高度变化

Xiaojiao Wei^1,2, Yunting Ma¹, Bobo Xie^3,4

¹The Second School of Medicine, Guangxi Medical University, Nanning, China.

BMC medical genomics

|May 21, 2024

概括

具有MYH11基因变异的单胞胎双胞胎在胸前大动脉动脉瘤/解剖 (TAAD) 和专利导管动脉 (PDA) 中表现出不同的结果. 这表明,除了遗传变异之外,还有其他因素影响疾病的严重程度.

科学领域:

心血管遗传学心血管遗传学
人类遗传学人类遗传学
分子生物学分子生物学

背景情况:

胸前大动脉动脉瘤/解剖 (TAAD) 和动脉管 (PDA) 是严重的自体主导心血管疾病.
这些疾病主要与MYH11基因的变异有关,该基因编码了11重链肌酸酶.

研究的目的:

为了研究MYH11变体的基因型-表型相关性.
分析MYH11变异单胞胎双胞胎的临床表现和结果.

主要方法:

单胞胎双胞胎从胎儿到婴儿阶段的详细表型比较.
整体外体和桑格测序用于变种识别和验证.
使用已识别的MYH11变体分析基因型-表型相关性.

主要成果:

在PDA,肺部低成形和高血压的单胞胎双胞胎中发现了一种新的可能致病的MYH11变体 (c.766A>G p.Ile256Val).
一个双胞胎经历了严重的胎儿并发症和死亡,而另一个则恢复并正常发育.
对102例病例的审查显示,MYH11的透率为82.35%,TAAD和PDA是共同特征,TAAD和PDA组之间的零变异比率有显著差异.

结论:

这项研究扩大了已知的MYH11突变谱.
单胞双胞胎的可变临床结果表明,除了遗传变异之外的因素,如神秘修饰剂,会影响疾病的表现和严重程度.
提供了对MYH11相关心血管疾病复杂的基因型-表型相关性的新见解.

关键词:

在MYH11中,MYH11是MYH11中的一个.表达力表达力表达力家庭胸前大动脉动脉瘤基因型表型相关性相关性双胞胎是单胞胎的双胞胎.专利的管道是动脉动脉的.

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