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反复增加的部透光导致识别了新NUP107变种

Isis Atallah¹, Katarina Cisarova¹, Cécile Guenot²

¹Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

American journal of medical genetics. Part A

|October 30, 2024

概括

胎儿部透明度增加可能表明遗传条件. 全基因组测序在复发病例中确定了NUP107基因变异,改善了单独发现的遗传咨询准确性.

科学领域:

产前诊断在产前诊断
医学遗传学医学遗传学
基因组医学是基因组医学.

背景情况:

胎儿部透明度的增加是积体和单一性综合征的标志物.
目前的诊断方法包括FISH,qPCR,型定型,CMA和向基因面板.
整个外体序列的实用性对于孤立的部透明度增加是有争议的.

研究的目的:

为了研究复发的遗传基础,显然是孤立的,在euploid胎儿中增加了上半透明度.
评估全基因组测序在这些病例的产前诊断中的作用.

主要方法:

整个基因组测序 (WGS) 进行在两个具有反复增加的部半透明度的幼胎儿身上.
基因变异被确定并分析它们与观察到的表型的潜在关联.

主要成果:

在两个受影响的胎儿中,在NUP107基因中发现了两种复合异质合体变异.
众所周知,NUP107变种会导致耐固醇性综合征,可能具有综合征特征 (加洛威-莫瓦特综合征).

结论:

整个基因组测序可以识别明显孤立的增加部透光度的致病性遗传变异.
识别NUP107变异改善了受影响家庭的遗传咨询准确度.
这一案例凸显了将WGS纳入产前诊断协议中的好处,该协议适用于带有增加半透明度的欧胎儿.

关键词:

在 NUP1077 中使用.盖洛威 - 莫瓦特综合征额头的半透明度额头的半透明度类固醇耐药性性综合征整体外基因组测序的测序整个基因组的测序.

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