矮身和发育迟缓与ZNF292中的新型框架转移突变有关:案例报告和文献综述
Li Dongxue1, Yao Ruen1,2, Yu Ying1
1Department of Medical Genetics and Antenatal Diagnostic Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine Shanghai Jiao Tong University Sanya Hainan China.
Clinical case reports
|August 8, 2025
概括
致病性ZNF292基因变异导致智力发育障碍 (IDD). 这项研究确定了一种新的ZNF292变异和相关症状,扩大了这种遗传性疾病的已知谱.
科学领域:
- 遗传学 是一个遗传学.
- 发育生物学 发展生物学
- 临床医学 临床医学
背景情况:
- 致病性ZNF292基因突变是知识发育障碍 (IDD) 的已知原因之一.
- IDD表现为智力障碍,言语迟缓和潜在的自闭症谱系障碍 (ASD).
- 与ZNF292相关的疾病的全谱需要进一步阐明.
研究的目的:
- 报告一种新的ZNF292变体和相关的临床表型.
- 扩大对ZNF292相关疾病的表型谱的理解.
- 审查有关ZNF292突变和IDD的现有文献.
主要方法:
- 在患有发育迟缓的患者身上进行了三位全外组测序.
- 在ZNF292中发现了一种新型的de novo异质合体变体 (c.5977_5978del,p.Gln1993fs).
- 使用ACMG指南评估了变异性致病性.
主要成果:
- 一名4岁的女性患者出现了语言延迟,矮身和骨异常.
- 在该患者身上发现了一种新的致病性ZNF292变体.
- 鉴定的变异扩大了ZNF292相关疾病的已知表型谱.
结论:
- 这项研究确定了一种新的ZNF292变种,有助于IDD.
- 下一代测序对于及时诊断遗传疾病至关重要.
- 需要进一步的研究才能充分理解与ZNF292相关的疾病.
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