在分裂手/脚形综合征中使用长读序列测序对双联WNT10B变种的哈普洛型分期
Jelena Pozojevic1, Naseebullah Kakar1,2, Henrike L Sczakiel3,4,5
1Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Clinical genetics
|January 18, 2025
概括
这项研究确定了新的WNT10B变异,导致分裂手/脚形 (SHFM). 长读测序证实了化合物异性,有助于在衰退性遗传疾病的诊断.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 医学科学 医学科学 医学科学
背景情况:
- 分手/脚形 (SHFM) 是一种具有多种遗传原因的先天性肢体缺陷.
- WNT10B基因变异与自身逆性SHFM有关.
- 遗传异质性使得SHFM的诊断和理解变得复杂.
研究的目的:
- 在一个没有亲属关系的父母的患者中确定SHFM的遗传基础.
- 使用先进的测序技术来描述新的WNT10B变体.
- 为了证明长读序列在衰退性疾病中对变异分相的有用性.
主要方法:
- 使用长期阅读的PacBio技术进行全基因组测序.
- 在WNT10B基因中识别和表征复合异质合体误解变体.
- 哈普洛型分期以确定没有父母DNA的变异性等位体状态.
主要成果:
- 一名患者被诊断为两种WNT10B误解变体的复合异构体:p.(Arg332Trp) 和一种新型变体,p.(Phe213Cys).
- 长读测序使得分相成功,证实了变体在不同的等位基因上.
- 这种p.(Phe213Cys) 变种是新鲜的,在人口数据库中没有发现,比如gnomAD.
结论:
- WNT10B变种可以通过化合物异构性引起自体递归SHFM.
- 长时间读取的哈普洛型分期是诊断衰退遗传疾病的宝贵工具,特别是当父母样本无法获得时.
- 这项研究扩大了SHFM已知的遗传谱,并突出了WNT10B的作用.
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