伴有ADAMTSL2突变的肾小球物理发育不良的产前诊断

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2025-05-01 DOI:10.1016/j.tjog.2024.10.021

Yu-Ting Jiang , Shao-Bin Lin , Cai-Xin Huang , Liu Du , Hong-Ning Xie

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引用次数: 0

摘要

目的通过产前超声、分子遗传学分析和尸检分析，对妊娠22周胎儿进行产前诊断。病例报告：一位27岁的初产妇在妊娠22 + 4周时因常规超声检查四肢短而接受了详细的异常扫描。绒毛膜绒毛取样和基于家族的全外显子组测序鉴定出两个错义ADAMTSL2变体，两者都被归类为不确定意义的变体。详细的超声检查显示四肢短小，手脚小，面部特征典型，心肺异常。表型和基因型的相关性支持GD的诊断。尸检证实了产前超声检查结果和GD的诊断。结论本例2个错义ADAMTSL2变异可能为GD的分子诊断提供新的证据。产前超声评估胎儿表型有助于我们更好地解释胎儿基因型，并发现潜在的致病变异。

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Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations

Objectives

We present prenatal diagnosis of Geleophysic dysplasia (GD) at 22 weeks gestation with prenatal ultrasound findings, molecular genetic analysis and postmortem examination.

Case report

A 27-year-old primigravida was referred at 22 + 4 weeks gestation for detailed anomaly scanning due to routine ultrasound detection of short limbs. Chorionic villus sampling followed by family-based whole-exome sequencing identified two missense ADAMTSL2 variants, both classified as variants of uncertain significance. Detailed ultrasound screening showed short limbs, small hands and feet, typical facial appearance, cardiac and pulmonary anomalies. The association of phenotype and genotype support the diagnosis of GD. Postmortem examination confirmed the prenatal ultrasound findings and the diagnosis of GD.

Conclusion

Two missense ADAMTSL2 variants in this case may add new evidence to the molecular diagnosis of GD. Prenatal ultrasound assessment of the fetal phenotype helps us to better interpret fetal genotype, and find the potential causative variants.

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来源期刊

Taiwanese Journal of Obstetrics & Gynecology OBSTETRICS & GYNECOLOGY-

CiteScore

3.60

自引率

23.80%

发文量

207

审稿时长

4-8 weeks

期刊介绍： Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology. The aims of the journal are to: 1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health 2.Deliver evidence-based information 3.Promote the sharing of clinical experience 4.Address women-related health promotion The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.