案例报告:在沙特阿拉伯,一个与发育性脑病变相关的创始UGDH变体
Manal Alaamery1,2,3, Salam Massadeh1,2,3, Manar Aldarwish4,5
1Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia.
Frontiers in genetics
|January 31, 2024
概括
一个罕见的遗传障碍,先天性糖化化 (CDG) 障碍,在沙特家庭中被发现. 全外因子测序揭示了一种新的UDP-葡萄糖脱酶 (UGDH) 基因变异,与发育延迟和神经疾病有关.
科学领域:
- 遗传学 是一个遗传学.
- 生物化学 生化学
- 神经学 神经学
背景情况:
- 先天性糖化 (CDG) 障碍包括100多种影响蛋白质和脂质糖化的罕见遗传疾病.
- CDG呈现出各种不同的临床表现,从轻度到严重程度,影响多个器官或系统.
研究的目的:
- 研究血缘家庭中神经和发育障碍的遗传原因.
- 识别与血糖酶化先天性疾病相关的基因中的新型致病变异.
主要方法:
- 在受影响的家庭成员身上进行了全外体测序 (WES).
- 进行分离分析以确认鉴定变异的遗传模式.
- 进行了文献审查,以评估变种的新性和种群特异性.
主要成果:
- 在UDP-葡萄糖脱酶 (UGDH) 基因中发现了一种同卵性变异 (c.950G>A; p.R317Q).
- 这种UGDH变体与观察到的脑,和全球发育迟缓的表型分离.
- 鉴定到的UGDH变种仅在沙特人口中发现,这表明潜在的创始人突变.
结论:
- 确定的UGDH变种与严重的CDG表型密切相关,表现为神经和发育障碍.
- 这一发现突显了UGDH在早期大脑发育中的作用,并表明沙特人口中存在特定的创始突变.
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