胎儿患有多重先天性异常综合征,其原因是ATP1A2中的新型变异
Natalie Burrill1, Nahla Khalek1,2, Ana G Cristancho1,3
1Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.
Prenatal diagnosis
|March 29, 2024
概括
一个新的ATP1A2基因突变在双胞胎胎中引起了严重的先天性异常,包括先天性隔膜 (CDH). 这一发现扩大了这种自体相衰退性疾病的已知范围.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 儿科神经学 儿科神经学
背景情况:
- 胎儿超声波中的腹腔大 (VM) 和小头可能表明潜在的遗传疾病.
- kongenital diaphragmatic hernia (CDH) 是一种复杂的先天性异常,具有各种潜在的原因.
- ATP1A2基因变异与神经系统疾病有关,但它们在包括CDH在内的多种先天性异常中的作用不太清楚.
研究的目的:
- 为了调查二,二双胞胎中严重的先天性异常的遗传原因.
- 描述与新型ATP1A2变异相关的表型.
- 为了确定CDH是否是ATP1A2相关疾病的表型谱的一部分.
主要方法:
- 胎儿超声波和MRI用于表型评估.
- 遗传分析的死后三元外体序列测序.
- 变异分析和文献综述,以确定基因型与表型的相关性.
主要成果:
- 胎儿超声波和MRI揭示了小头症,严重的VM,体发生,头皮/部加厚,异形耳朵,尾巴和CDH在一个双胞胎中.
- 尸体后的三元外基因组测序发现了一种同卵性可能致病的ATP1A2变体 (c.2439+1G>A),预计会导致移和功能丧失.
- 受影响的双胞胎在出生后不久因呼吸道损害而死亡;双胞胎是正常的.
结论:
- 已识别的ATP1A2变体与严重的自体递归多重先天性异常综合征有关.
- 先天性隔膜 (CDH) 应考虑在ATP1A2相关疾病的表型谱中.
- 这个案例报告了ATP1A2中第一个导致这种综合征的移突变,扩大了对其遗传基础的理解.
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