在中国患有克莱夫斯特拉综合征-2的患者中KMT2C的新生殖系变异
Qi Yang1,2, Qiang Zhang1,2, Sheng Yi1,2
1Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Frontiers in neurology
|February 15, 2024
概括
克莱夫斯特拉综合征-2 (KLEFS2) 是一种罕见的神经发育障碍,由KMT2C基因变异引起. 这项研究在中国患者中发现了五种新的KMT2C变异,扩大了已知的遗传谱,并证实了核心表型.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 神经发育障碍 神经发育障碍
- 罕见疾病 罕见疾病
背景情况:
- 克莱夫斯特拉综合征 (KLEFS) 是一种罕见的遗传性神经发育障碍,有两个亚型:KLEFS1 (EHMT1基因) 和KLEFS2 (KMT2C基因).
- KLEFS2不太常见,报告的病例有限,因此进一步的遗传和表型表征是至关重要的.
研究的目的:
- 诊断和表征Kleefstra综合征-2 (KLEFS2) 在五个无关的中国患者.
- 确定与KLEFS2.2.相关的KMT2C基因中的新型致病变体.
- 分析KMT2C变异患者的基因型-表型相关性.
主要方法:
- 整体外体序列测序 (WES) 用于基因分析.
- 收集了五名新诊断的患者的临床数据.
- 从18名KMT2C变异患者的表型数据进行了审查,以确定基因型-表型相关性.
主要成果:
- 在五名患有KLEFS2.2.的中国患者中,发现了五种新的KMT2C变异 (c.9166C>T,c.9232_9247delCAGCGATCAGAACCGT,c.5068dupA,c.10815_10819delAAGAA,c.6911_6912insA).
- 患者表现出与KLEFS2一致的临床特征,包括智力障碍,面部形和发育迟缓.
- 在KMT2C变异患者中观察到广泛的表型变异性.
结论:
- 这项研究扩大了克莱夫斯特拉综合征-2 (KLEFS2) 的已知遗传和表型谱.
- 与KMT2C变体相关的核心表型包括智力障碍,面部形,语言和运动延迟,行为异常,低血压,矮身和体重减轻.
- 性别可能会影响KLEFS患者的临床结果2.2.
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
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
3.1K
相关概念视频
01:05Single Nucleotide Polymorphisms-SNPs
15.1K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.1K
01:31Translation
142.0K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
142.0K