<i>RNASEH2A</i>基因复合杂合变异的脑皮质发育畸形胎儿产前超声表现及遗传学分析一例

doi:10.3877/cma.j.issn.1672-6448.2025.09.015

中华医学超声杂志（电子版） ›› 2025, Vol. 22 ›› Issue (09) : 884 -886. doi: 10.3877/cma.j.issn.1672-6448.2025.09.015

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RNASEH2A基因复合杂合变异的脑皮质发育畸形胎儿产前超声表现及遗传学分析一例

钟兴健¹, 吴晓霞¹, 罗彩群¹, 王辉¹, 陈丽媛¹, 文华轩², 袁鹰², 廖伊梅², 曾晴², 李胜利²^,^†(

)

¹　518000　南方医科大学妇女儿童医学中心深圳市妇幼保健院母胎医学中心
²　518000　南方医科大学妇女儿童医学中心深圳市妇幼保健院超声科

收稿日期:2025-06-13 出版日期:2025-09-01
通信作者: 李胜利
基金资助:
深圳市孕产疾病与母婴健康重点实验室(ZDSYS20230626091559006)

Prenatal ultrasonography and genetic analysis of malformations of cortical development in a fetus with compound heterozygous mutation of RNASEH2A: a case report

Xinjian Zhong, Xiaoxia Wu, Caiqun Luo

Received:2025-06-13 Published:2025-09-01

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钟兴健, 吴晓霞, 罗彩群, 王辉, 陈丽媛, 文华轩, 袁鹰, 廖伊梅, 曾晴, 李胜利. RNASEH2A基因复合杂合变异的脑皮质发育畸形胎儿产前超声表现及遗传学分析一例[J/OL]. 中华医学超声杂志（电子版）, 2025, 22(09): 884-886.

Xinjian Zhong, Xiaoxia Wu, Caiqun Luo. Prenatal ultrasonography and genetic analysis of malformations of cortical development in a fetus with compound heterozygous mutation of RNASEH2A: a case report[J/OL]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2025, 22(09): 884-886.

图1 孕23⁺¹周RNASEH2A基因复合杂合变异胎儿超声图像。图a示胎儿大脑实质板下带与中间带明显分层，图b示颅内多发强回声，图c示肝内多发强回声，图d示肠道回声增强

图2 孕25⁺³周RNASEH2A基因复合杂合变异胎儿超声图像。图a示胎儿大脑实质板下带与中间带明显分层，图b示颅内多发强回声，图c示肝内多发强回声，图d示心胸面积比增大（0.36）

1	Oegema R, Barakat TS, Wilke M, et al. International consensus recommendations on the diagnostic work-up for malformations of cortical development [J]. Nat Rev Neurol, 2020, 16(11): 618-635.
2	郭林霭, 朴月善. 皮质发育畸形的分型及遗传学最新研究进展 [J]. 中华神经科杂志, 2023, 56(3): 344-350.
3	Blayney GV, Laffan E, Jacob PA, et al. Monogenic conditions and central nervous system anomalies: a prospective study, systematic review and meta-analysis [J]. Prenat Diagn, 2024, 44(4): 422-431.
4	廖伊梅, 汪兵, 文华轩, 等. 胎儿外侧裂异常的产前影像学分类及相关疾病 [J]. 中华超声影像学杂志, 2023, 32(3): 211-219.
5	Sanchis A, Cervero L, Bataller A, et al. Genetic syndromes mimic congenital infections [J]. J Pediatr, 2005, 146(5): 701-705.
6	Rice GI, Reijns MA, Coffin SR, et al. Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutieres syndrome [J]. Hum Mutat, 2013, 34(8): 1066-1070.

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