与SLC6A1相关的神经发育障碍的家族内变异性
Benedetta Kassabian1,2, Christina Dühring Fenger1,3, Marjolaine Willems4
1Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.
Frontiers in neuroscience
|July 28, 2023
概括
患有SLC6A1相关神经发育障碍 (SLC6A1-NDD) 的个人在家庭内表现出各种症状. 亲戚往往有较轻的智力和学习障碍,与严重的ID和的试验者相比.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 发展生物学 发展生物学
背景情况:
- 与SLC6A1相关的神经发育障碍 (SLC6A1-NDD) 呈现出广泛的症状,包括智力障碍 (ID),自闭症谱系障碍 (ASD) 和.
- 在SLC6A1-NDD中,家族表型异质性尚未得到充分证实,因此需要进一步研究家族内变异性.
研究的目的:
- 研究在SLC6A1基因中具有病原性变异的家族中的家族内表型变异性.
- 了解受SLC6A1-NDD影响的家庭中临床表现的范围.
主要方法:
- 收集了来自13个家族的39个个体的临床,实验室和遗传数据,这些个体具有遗传SLC6A1变异.
- 数据通过国际和遗传中心网络收集.
主要成果:
- (71%的受试者,36%的亲属) 和智力障碍 (100%的受试者,13%的亲属) 是常见的. 精神症状影响了51%的队列.
- 亲属通常表现出较轻的ID和学习障碍,与具有中度至严重ID,和精神障碍的试验者形成鲜明对比.
- 在发现的12种不同的SLC6A1变体中,没有发现基因型-表型关联.
结论:
- 在SLC6A1-NDD的家族内变异性是显著的,亲属往往比试验者呈现更温和的表型.
- 轻微的SLC6A1-NDD病例,特别是在老年人中,由于缺乏遗传检测,可能被低诊断.
- 对家族内表型变异性的进一步研究对于扩大对SLC6A1-NDD的理解和改善遗传咨询至关重要.
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