与17q12,HNF1B,微切除相关的产前性表型的表征
Courtney P Verscaj1, Frances Velez-Bartolomei2, Ethan Bodle1
1Stanford University, Palo Alto, California, USA.
Prenatal diagnosis
|August 26, 2023
概括
17q12微切除与先天性脏和尿路异常有关. 产前脏表型包括囊和回声性脏,大多数产后形成囊,但没有末期脏疾病.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 儿科脏病学 儿科脏病学
- 发展生物学 发展生物学
背景情况:
- 经常出现的17q12微切除与脏和尿路的先天性异常 (CAKUT),成熟期糖尿病和神经发育障碍有关.
- 病是常见的特征,但产前表型和产后结果的特征并不清楚.
- 位于17q12区域的HNF1B基因在发育中起着至关重要的作用.
研究的目的:
- 描述与17q12微切除相关的产前和产后表型.
- 评估复制数变异分析用于鉴定异常病例中的17q12微切除的实用性.
- 为了改善管理,将17q12微切除与其他CAKUT原因区分开来.
主要方法:
- 追溯审查26个确诊17q12/HNF1B微删除病例的医疗记录.
- 专注于17例具有可用的产前脏超声波数据的病例.
- 对染色体微阵列和向基因测序数据的分析.
主要成果:
- 观察到异质的产前功能表型,其中囊 (41%) 和性脏 (41%) 是最常见的.
- 产后,73%的患者患有囊;在随访期间,没有病例进展到末期病.
- 其他报告的产前发现包括非特异性发育不良,脏膨胀,水性缩和下泌尿道阻塞.
结论:
- 对17q12微删除的拷贝数变异分析应考虑在胎儿中检测到各种产前脏异常.
- 区分17q12微删除是非常重要的,因为它独特的预后和相关的发现,影响临床管理.
- 早期识别有助于针对受影响个体进行量身定制的怀孕和产后护理.
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