MID1基因新发突变致Opitz G/BBB综合征伴 胎儿水肿的产前诊断
Prenatal Diagnosis of Opitz G/BBB Syndrome with Hydrops Fetalis Caused by a de Novo MID1 Gene Mutation
DOI: 10.12677/acm.2026.1641727, PDF,   
作者: 廖旭珍, 马鑫庭：暨南大学附属第一医院妇产科，广东 广州；张铨富*：广东省深圳市宝安区妇幼保健院产科，广东 深圳
关键词: X连锁Opitz G/BBB综合征；MID1基因；胎儿水肿；产前诊断；全外显子组测序；Opitz G/BBB Syndrome； X-Linked； MID1 Protein； Hydrops Fetalis； Prenatal Diagnosis； Whole Exome Sequencing
摘要: 目的：旨在通过一例经遗传学确诊的病例，描述MID1基因c.1483C>T突变相关的严重产前表型(胎儿水肿)，并复习相关文献，探讨其基因型–表型关联。方法：报道一例30岁经产妇，孕12周早孕系统性筛查超声提示胎儿心脏三尖瓣返流，孕16周超声提示胎儿心脏三尖瓣反流和胸腔积液，经产前遗传学检测提示胎儿携带MID1基因c.1483C>T (p.R495X)半合子变异，为新发突变。结果：序列超声提示胎儿水肿进展，孕妇及家属在充分知情基础上，经遗传咨询后选择终止妊娠。结论：本病例扩展了MID1基因c.1483C>T突变所致X连锁Opitz G/BBB综合征(XLOS)的产前表型谱，证实其与胎儿水肿的强关联性，强调了对不明原因胎儿水肿病例进行全外显子组测序(WES)以明确病因的重要性。
Abstract: Objective: To report the severe prenatal phenotype of hydrops fetalis associated with the MID1 gene c.1483C>T mutation in a genetically confirmed case, and explore the genotype-phenotype correlation by reviewing relevant literature. Methods: A case of a 30-year-old multipara is reported. At 12 weeks of pregnancy, first-trimester ultrasound screening showed fetal tricuspid regurgitation. At 16 weeks, follow-up ultrasound revealed fetal tricuspid regurgitation and pleural effusion. Through prenatal genetic testing, a de novo hemizygous variant c.1483C>T (p.R495X) in the MID1 gene was confirmed in the fetus. Results: Sequential ultrasound demonstrated progressive hydrops fetalis. After adequate genetic counseling and full informed consent, the patient and her family opted for termination of pregnancy. Conclusion: This case extends the prenatal phenotypic spectrum of X-linked Opitz G/BBB syndrome (XLOS) caused by the MID1 gene c.1483C>T mutation, confirming its strong association with hydrops fetalis. Moreover, it highlights the importance of performing whole-exome sequencing (WES) to identify the underlying etiology in cases of unexplained hydrops fetalis.
文章引用：廖旭珍, 马鑫庭, 张铨富. MID1基因新发突变致Opitz G/BBB综合征伴 胎儿水肿的产前诊断[J]. 临床医学进展, 2026, 16(4): 4564-4569. https://doi.org/10.12677/acm.2026.1641727

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