在CSF1R的同卵性突变导致大脑异常,神经退行和骨质硬化症 (BANDDOS)
Hossein Daghagh1,2, Haniyeh Rahbar Kafshboran2, Yousef Daneshmandpour1,2
1Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
BioImpacts : BI
|July 11, 2023
概括
在CSF1R基因中发现了一种新型变异,c.2498C>T; p.T833M,被确定为BANDDOS (大脑异常,神经退行和骨质硬化) 的潜在原因. 这一发现有助于理解这种罕见疾病的遗传基础.
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:
- CSF1R基因编码了对殖民地刺激因子-1的受体,对巨细胞和单细胞功能至关重要.
- 在CSF1R中发生的突变与带有球形的遗传性扩散性白脑病变 (HDLS) 和BANDDOS有关.
- BANDDOS是一种自体衰退性疾病,其特点是脑部异常,神经退行和骨质硬化症.
研究的目的:
- 在患者及其家人身上识别导致BANDDOS的基因突变.
- 调查发现的突变对CSF1R蛋白的功能和结构影响.
主要方法:
- 从受影响的个人和家庭成员的基因组DNA的向基因测序.
- 生物信息学分析以预测突变对蛋白质功能和结构的影响.
主要成果:
- 在指数患者和胎儿的CSF1R基因的第19个外显子中发现了一种新型的同卵性变异,c.2498C>T; p.T833M.
- 预计该变种对CSF1R功能产生不利影响,并且位于关键域,尽管它没有造成结构损伤.
- 携带该变种的异卵性家庭成员没有表现出疾病症状,这表明是衰退性遗传.
结论:
- 根据遗传模式和临床表现,已识别的CSF1R变异c.2498C>T; p.T833M被认为是BANDDOS的致病突变.
- 这一发现有助于了解CSF1R相关疾病及其遗传基础.
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