与ASXL3相关的疾病:分子表型和综合性审查提供了对疾病机制的洞察力
Emily Woods1,2, Nicola Holmes3, Shadi Albaba3
1Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.
Clinical genetics
|February 29, 2024
概括
与ASXL3相关的疾病,或贝恩布里奇-罗珀斯综合征,是一种神经发育状况. 本综述量化了全球延迟和低血压等常见特征,并确定了未来研究的知识差距.
科学领域:
- 遗传学 遗传学 是一个
- 神经发育障碍 神经发育障碍
- 罕见疾病 罕见疾病
背景情况:
- 与ASXL3相关的疾病 (Bainbridge-Ropers综合征) 是一种罕见的神经发育状况,于2013年首次描述.
- 现有的病例报告和系列有限,需要进行全面的文献审查,以巩固当前的知识.
研究的目的:
- 对ASXL3相关疾病进行全面的文献审查.
- 量化共同的表型特征,并对基因变异进行对比.
- 识别有关病理生理学,疾病机制和患病率的知识差距.
主要方法:
- 系统的文献搜索和抽象选.
- 对相关的出版文献进行分析.
- 常见的表型特征的量化和ASXL3变体的分类.
主要成果:
- 全球发育迟缓/智力障碍 (97%),低血压 (88%),特征性面部特征 (93%) 和食问题 (76%) 的高患病率.
- 大多数已识别的基因变异是ASXL3外体11或12中的de novo截断变异.
- 在病理生理学,疾病机制,误解变异贡献,变异位置相关性和流行/透数据方面存在重大知识差距.
结论:
- 与ASXL3相关的疾病呈现出一致的神经发育和身体特征.
- 在ASXL3中De novo截断变体是主要已知的原因.
- 进一步的研究对于解决当前的知识差距和改善临床理解和管理至关重要.
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