在产前诊断的鲁宾斯坦-泰比综合征中脑部异常
Laurence S Carmant1, Elka Miller2, Susan Blaser2
1Department of Obstetrics and Gynaecology, Division of Maternal Fetal Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada.
Prenatal diagnosis
|April 8, 2025
概括
鲁宾斯坦-泰比综合征 (RSTS) 的产前诊断很少见,但这项研究发现了5例具有特征的大脑异常的病例. 基因分析证实了所有受影响胎儿的CREBBP基因突变,改善了对子宫内RSTS的理解.
科学领域:
- 医学遗传学 医学遗传学
- 发展生物学 发展生物学
- 产前诊断 在产前诊断
背景情况:
- 鲁宾斯坦-泰比综合征 (RSTS) 是一种罕见的自体主导性疾病.
- RSTS的特点是明显的面部特征,宽大指/幻影,以及智力障碍.
- 致病基因是CREBBP和EP300,但产前诊断仍然不常见.
研究的目的:
- 描述5例鲁宾斯坦-泰比综合征的产前发现.
- 为了将神经声学发现与RSTS中的遗传突变相关联.
- 为了提高对RSTS胎儿大脑异常的理解.
主要方法:
- 五个产前诊断的RSTS病例的回顾性审查.
- 神经声谱用于胎儿大脑评估.
- 分子遗传测试包括染色体微阵列 (CMA) 和三元整体外基因组测序 (Trio-WES).
主要成果:
- 所有五个胎儿都出现了脑部异常.
- 在5例中,有3例观察到体异常.
- 在剩余的病例中,发现了后异常,包括虫低成形和丹迪-沃克形.
- 在所有情况下,通过CMA或Trio-WES确定了CREBBP基因突变.
结论:
- 产前诊断RSTS是可行的详细的神经声学.
- 特定的大脑形与RSTS有关.
- 对CREBBP突变的遗传确认巩固了诊断,并有助于理解RSTS的病原性.
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