结构变异扰乱了患有综合症复杂微的患者中远程FOXC1基因的表达
Julie Plaisancié1,2,3, Bertrand Chesneau1,2,3, Lucas Fares-Taie4
1Laboratoire de Référence des Anomalies Malformatives de l'Œil, Institut Fédératif de Biologie, Centre Hospitalier Universitaire de Toulouse, 31300 Toulouse, France.
International journal of molecular sciences
|March 13, 2024
概括
全基因组测序发现了一种破坏眼部发育的新型逆转. 这一发现强调了在诊断罕见的眼部形时检查结构变异的重要性.
科学领域:
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
- 眼科医生 眼科 眼科
背景情况:
- 眼部形 (OMs) 是各种发育障碍,在一半受影响个体中,遗传原因不明.
- 目前的诊断方法,如全外体测序,往往错过了非编码变体和结构异常.
- 研究受影响组织是具有挑战性的,阻碍了对OMS的理解.
研究的目的:
- 通过识别结构变异来研究全基因组测序 (WGS) 在诊断眼部形方面的潜力.
- 报告一个新型的遗传原因的综合症眼睛形在一个病人与一个新的反转.
- 探索这种逆转对附近FOXC1基因表达的影响.
主要方法:
- 进行全基因组测序 (WGS) 来检测结构变异.
- 在该患者身上发现了6p25区域的 de novo 3.15 Mb 逆转.
- 用结膜细胞的转录分析来评估FOXC1基因表达.
主要成果:
- 在FOXC1基因附近检测到一个平衡的结构变体,即3.15Mb的倒置.
- 这位患者在结膜细胞中表现出FOXC1的单基表达.
- 这表明逆转影响了受影响FOXC1等位基因的表达.
结论:
- 结构变异,包括非编码区域的结构变异,是眼睛形的关键诊断目标.
- WGS是揭示OMs复杂遗传原因的宝贵工具.
- 颠覆拓关联域的颠覆可以导致基因失调和发育缺陷.
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