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鉴定一个生殖线深度内在PTEN删除导致通过整个基因组和向RNA测序对外化

Morgane Boedec¹, Camille Aucouturier^2,3, Mathias Cavaillé^4,5,6

¹Service de Génétique Oncologique, Hôpitaux Universitaires de Strasbourg, 1 Avenue Molière, 67200, Strasbourg, France.

Familial cancer

|February 7, 2025

概括

全基因组测序发现了PTEN基因的深度内基因缺失,解决了PTEN哈马托马瘤综合征的诊断. 这突出了全基因组测序.

科学领域:

遗传学遗传学是一种遗传学.
在瘤学瘤学.
分子生物学分子生物学

背景情况:

PTEN Hamartoma瘤综合征 (PHTS) 是一种自体主导性疾病,临床表现各不相同.
在PTEN基因中的功能丧失变异通常使用向高通量测序 (HTS) 进行识别.
一些PHTS病例仍然未被诊断,尽管有负面的PTEN向HTS.

研究的目的:

为了研究PHTS的遗传原因,在一个患有该综合征的表型,但有针对性测序的负面结果的患者中.
评估全基因组测序 (WGS) 在识别复杂或非编码变异时的有用性,这些变异被传统方法遗漏了.

主要方法:

临床表型与PHTS一致.
针对PTEN的高通量测序 (HTS).
在患者和父母身上进行三组全基因组测序 (WGS).
向RNA测序以确认转录的改变.

主要成果:

针对PTEN的HTS没有发现致病变体.
三组WGS在PTEN (intron 5) 的一个深层内部区域中发现了de novo生殖线98bp的删除.
RNA测序证实了删除导致伪exon的包含,移,并预测了蛋白质的切断.

结论:

在PTEN中的深层内在结构变异可能导致PHTS,并且可能会被目标测序遗漏.
全基因组测序对于诊断复杂的遗传疾病如PHTS至关重要,当标准方法失败时.
这一案例强调了WGS在罕见遗传疾病中识别新型致病机制的诊断能力.

关键词:

深层内在变体的内在变体.在这里,我们可以使用PTEN.在PTEN血瘤瘤综合征.整个基因组的测序.

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