在突尼斯患者中首次通过全外体测序检测到1p36删除
Nesrine Kerkeni1,2, Maher Kharrat1, Lilia Kraoua1,2
1Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Birth defects research
|January 20, 2026
概括
全外体测序 (WES) 成功诊断了一名突尼斯新生儿的罕见1p36删除综合征. 这突出了WES的特点.
科学领域:
- 医学遗传学 医学遗传学
- 基因组医学是基因组医学.
- 新生儿护理 新生儿护理
背景情况:
- 1p36删除综合征是一种罕见的遗传疾病,与严重的发育异常有关.
- 在新生儿中诊断罕见的遗传疾病存在重大挑战,特别是在资源有限的环境中.
研究的目的:
- 在突尼斯报告第一个使用全外因子测序 (WES) 诊断的1p36删除综合征病例.
- 证明WES在识别新生儿结构变异方面的实用性,特别是在先进遗传技术稀缺的地方.
主要方法:
- 临床和遗传研究的新生儿与严重的多形形态综合征.
- 整体外体测序 (WES) 用于检测遗传异常.
- 光 in situ 杂交 (FISH) 用于验证 WES 发现.
- 根据ACMG指南的变体注释和分类.
主要成果:
- WES在1p36区域中发现了11.64 Mb的异合体间位缺失,影响了155个编码基因.
- 主要受影响的基因包括MMP23B,GABRD,SKI,PRDM16,KCNAB2,RERE,UBE4B和CASZ1.
- 删除被归类为致病性,由FISH证实. 临床特征包括子宫内生长限制,新生儿,头骨面部形,先天性心脏缺陷和体的发生.
结论:
- 这是突尼斯首次通过WES诊断出1p36删除的病例.
- WES对于检测结构变异非常有价值,在资源有限的环境中提供诊断解决方案.
- 这些发现支持WES作为诊断罕见遗传疾病的关键工具,即使没有获得染色体微阵列或基因组测序.
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