相关实验视频

Updated: May 28, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

在患有 dystonia 和发育障碍的患者中,KMT2B 变体在 2565 号码区的可变表达性

Antonia M Stehr¹, Jan Fischer², Nazanin Mirza-Schreiber³

¹Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.

Parkinsonism & related disorders

|February 11, 2025

概括

在Arg2565中,特定的KMT2B基因变异会导致在 dystonia 中的可变表达性. 这种热点突变影响疾病的严重程度和表现,有助于患者咨询和了解KMT2B相关疾病.

科学领域:

遗传学遗传学是一个
神经科学是一个神经科学.
分子生物学分子生物学

背景情况:

与KMT2B相关的 dystonia表现出可变的表现力,这是一个鲜为人知的现象.
在特定的氨酸特异性甲基转移酶-2B (KMT2B) 位点的复发变异在推动临床异质性的作用需要进一步调查.

研究的目的:

识别和描述具有影响KMT2B.Arg2565残留物的变异的独立家族.
研究基因型-表型相关性和对DNA甲基化模式的影响.

主要方法:

整体外基因组/基因组测序和多部位患者招募.
基因型-表型相关性分析.
在DNA甲基化和Episignature分析.

主要成果:

确定了两个携带KMT2Bc.7693C>G (p.Arg2565Gly) 变异的家族和一个携带de novoc.7693C>T (p.Arg2565Cys) 变异的患者.
观察到一种表型谱,包括童年发病的 dystonia,智力障碍和行为症状.
p.Arg2565Gly变体显示了KMT2B典型的甲基化表征,尽管与功能丧失变体相比,其效果较小.

结论:

在Arg2565建立了一个KMT2B误解突变热点,与疾病严重程度和表达的变化有关.
结果为患者咨询和阐明KMT2B相关疾病病理机制提供了关键信息.

关键词:

发育性疾病是一种发展性疾病.迪斯托尼亚 (Dystonia) 是一种疾病.一个副签名.在KMT2B中,KMT2B是KMT2B.经常性变化的变化.可变的表达性变量.

更多相关视频

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

相关概念视频

Translation

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 Life
Proteins are...

Sex-linked Disorders

Sex-linked Disorders

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.

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Mutations

Mutations