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在患有CHARGE综合征的胎儿中,母亲的CHD7恶性体马赛克

Ting Bai^1,2,3, Ying Shen⁴, Yanting Yang^1,2

¹Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.

American journal of medical genetics. Part A

|December 7, 2023

概括

孕产妇CHD7恶体马赛克导致胎儿CHARGE综合征 (CS),尽管父母看起来是野生型. 这凸显了对父母组织进行新突变检测的重要性,以评估遗传咨询中的复发风险.

科学领域:

遗传学是一个遗传学.
发展生物学发展生物学
医学遗传学医学遗传学

背景情况:

家长的马赛克主义,在家长细胞的子集中存在突变,是已知的后代新突变的已知原因.
查奇综合征 (CS) 是一种复杂的遗传疾病,与CHD7基因突变有关.

研究的目的:

为了研究胎儿CHARGE综合征的遗传基础.
为了确定一个新生CHD7变异的原因,在一个胎儿与CS.
确定母体恶性体马赛克在传染CHD7变种中的作用.

主要方法:

基于三元的全外因子测序 (WES) 用于变种检测.
高深度WES用于识别家长的马赛克主义.
桑格测序用于变种确认.
对多个母亲组织的分析以确认马赛克主义.

主要成果:

在胎儿组织中发现了一种新的异构性CHD7无意义突变 (c.5794G>T/p.E1932*).
父母最初看起来是野生类型,这表明了新的突变.
高深度WES揭示了各种组织中CHD7变体的母性恶体马赛克 (3.2%-23.3%的等位基因频率).
无症状的母亲在周围血液,毛囊,口腔和喉上皮质中携带了这种变体.

结论:

母亲CHD7恶性体马赛克是胎儿CHARGE综合征的确诊遗传原因.
准确评估父母身份对于识别胎儿CS. de novo变异至关重要.
这种诊断对遗传咨询和复发风险评估有重大影响.

关键词:

查奇综合症 (CHARGE综合症) 是一种 CHD7 CHD7 的时间邪恶的社会马赛克主义复发风险复发风险复发风险整体外基因组测序的测序

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