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产前罕见的16q24.1遗传学和表观遗传学之间的删除:一篇评论

Valentina Fumini¹, Romina Bonora¹, Anna Busciglio¹

¹Medical Genetics and Genomic Unit, San Bortolo Hospital, 36100 Vicenza, Italy.

|August 28, 2025

概括

带有肺静脉错位的膜毛细管张症 (ACDMPV) 是一种与FOXF1基因相关的罕见遗传疾病. 通过基因检测和超声波标记的早期检测可以改善这种严重疾病的产前诊断和咨询.

科学领域:

遗传学
发育生物学
医疗诊断

背景情况:

带有肺静脉错位的气膜毛细管张症 (ACDMPV) 是一种罕见的,往往致命的先天性疾病,导致新生儿严重的呼吸困扰和多系统形.
ACDMPV主要与FOXF1基因或其16q24. 1染色体上的调节区域的缺失或突变有关,约占病例的90%.

研究的目的:

审查涉及FOXF1的16q24.1删除报告的产前病例.
识别可暗示 ACDMPV 的复发性超声波特征.
阐明 ACDMPV 的基因组和表观遗传机制.

主要方法:

对包括FOXF1基因在内的16q24.1缺失的产前病例进行系统性文献审查.
包括一个新的病例,增加了部半透明度和de novo 16q24.1删除.
报告病例的超声波发现和组织病理学数据的分析.

主要成果:

确定了9例涉及FOXF1或其增强剂的16q24. 1删除的产前病例.
常见的超声检测结果包括第一季度部透光度/囊性湿瘤的增加以及晚期的心脏,脏和肠道形.
仅通过超声波进行产前诊断是具有挑战性的;确认通常需要进行尸检或通过组织学分析结束.

结论:

非编码的调节区域和表观遗传因素,如差异甲基化和印记,显著影响FOXF1调节.
为了提高 ACDMPV 的产前诊断准确度,需要将阵列 CGH 或下一代测序与暗示性超声波标记的提高意识相结合.
对FOXF1表观遗传调节的进一步研究对于准确的复发风险评估和遗传咨询至关重要.

关键词:

16q24.1微删除其他类型带有肺静脉错位的气囊毛细管张

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