在患有神经发育综合征障碍的患者中CAMK2D De Novo Missense变异:一个病例报告
Ekaterina R Tolmacheva1, Jekaterina Shubina1, Taisiya O Kochetkova1
1Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, 117198 Moscow, Russia.
Genes
|June 28, 2023
概括
在CAMK2D基因 (p.Arg275His) 中的一种新型变异可能导致扩张性心肌病和神经发育障碍,包括智力障碍和发育迟缓.
科学领域:
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
- 神经学 神经学
背景情况:
- 发育迟缓的智力障碍是一种常见的疾病.
- 先天性心肌病症很少与发育迟缓有关.
- 这份报告详细介绍了一名患有扩张性心肌病症和发育迟缓的患者.
研究的目的:
- 为了确定患者联合扩张性心肌病和发育迟缓的遗传原因.
- 研究一种新型基因变异在这些条件中的作用.
主要方法:
- 在探针上进行了全外体测序 (WES) 分析,并扩展到三组分析.
- 对Ca2+/calmodulin依赖蛋白激酶II三角 (CaMKIIδ) 蛋白进行了结构分析.
主要成果:
- 三重测序确定了CAMK2D基因中的一个新错误变体 (p.Arg275His).
- 这种变种目前在数据库或文献中与任何已知的疾病没有关联.
- 结构分析证实了CaMKIIδArg275His变体的可能致病性.
结论:
- 这种CaMKIIδArg275他的变体被强烈认为是导致患者扩张性心肌病的原因.
- 这种变异也可能是观察到的神经发育障碍的原因.
关键词:
这就是CAMK2D.卡2+/卡尔莫杜林依赖蛋白激酶II三角酶在WES WES中,您可以使用扩张性心肌病症 扩张性心肌病症神经发育障碍是一种神经发育障碍.这是一个三人组的三人组.整体外基因组测序的测序更多相关视频
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
33.8K
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.8K
相关概念视频
01:43Sex-linked Disorders
102.4K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.4K
02:26Comparing Copy Number Variations and SNPs
17.8K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.8K