相关实验视频

Updated: May 30, 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SHROOM3中,病原性变异与面部微小症相关

Qin Li¹, Bing-Hua Zhang², Qi Chen³

¹Department of Stomatology, Eye&ENT Hospital, Fudan University, Shanghai, 200031, China.

Journal of human genetics

|January 28, 2025

概括

SHROOM3被确定为Hemifacial Microsomia (HFM),一种罕见的先天性疾病的可能致病基因. 这一发现为HFM提供了新的见解.

科学领域:

遗传学是一个遗传学.
发展生物学发展生物学
医学研究医学研究

背景情况:

半面微观症 (HFM) 是一种罕见的先天性疾病,影响面部对称性和发育.
已知的遗传原因仅解释了HFM病例的一小部分,需要进一步的基因发现.

研究的目的:

为了研究SHROOM3基因在半面微小病的病因中的作用.
为了识别与HFM.相关的SHROOM3中的新型致病变体.

主要方法:

对HFM患者进行了全基因组关联研究和基因负担分析.
识别了有害的SHROOM3变体,并对其进行了功能评估.
研究了SHROOM3表达模式和小鼠基因编辑的影响.

主要成果:

在SHROOM3中常见的变体与HFM相关,而罕见的变体在HFM患者中显著丰富.
在中国HFM患者中发现了7种有害的SHROOM3变异,这表明具有不完全穿透性的主导遗传.
基因编辑小鼠中喉弧和面部异常中的SHROOM3表达支持其在面部发育中的作用.

结论:

SHROOM3被认为是可能导致 Hemifacial Microsomia 的致病基因.
这些发现扩大了对HFM的遗传理解,并突出了SHROOM3作为潜在的治疗点.

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

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

相关概念视频

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,...