发育性语言障碍儿童的遗传结果:系统性审查
Vivian van Wijngaarden1, Hester de Wilde2, Dieuwke Mink van der Molen3
1Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
Frontiers in pediatrics
|February 1, 2024
概括
儿童发育语言障碍 (DLD) 与染色体异常和特定基因变异有关. 了解这些遗传因素是准确临床诊断和潜在治疗的关键.
科学领域:
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
- 临床医学 临床医学
背景情况:
- 发育性语言障碍 (DLD) 是一种常见的儿童状况,影响沟通和心理社会发展.
- 确定遗传因素对于在DLD患者中准确的临床诊断至关重要.
- 以前的研究表明,与DLD相关的致病变体和染色体异常数量越来越多.
研究的目的:
- 系统地审查有关儿童DLD引起的致病变体和染色体异常的文献.
- 为临床遗传学家提供DLD遗传基础的基本理解.
- 探索已识别的DLD相关基因与更广泛的临床谱的关联.
主要方法:
- 在PubMed和Embase进行了系统的文献搜索.
- 包括的研究被批判性地评估,并提取数据.
- 在OMIM数据库中进行额外的搜索,以评估与其他疾病的基因关联.
主要成果:
- 在搜索中,从超过15,000篇论文中,确定了47篇相关研究.
- 性染色体形和副本数变异 (例如,del15q13.1-13.3,del16p11.2) 在DLD中涉及.
- 确定了45个候选基因,其中22个与智力障碍,和自闭症等更广泛的临床谱相关.
结论:
- DLD可能与性染色体形和特定拷贝数变异有关.
- 鉴定出来的基因突出显示了DLD的遗传异质性.
- 没有并发症的DLD和综合性语言障碍之间存在重叠的遗传病因.
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