Prenatal diagnosis and management of desbuquois dysplasia type 1 due to CANT1 mutation: A case report

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2025-05-01 DOI:10.1016/j.tjog.2024.11.010

Miraç Özalp , Murat İbrahim Toplu , Biray Ertürk , Aybekcan Batman , Veli Mihmanlı

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引用次数: 0

Abstract

Objective

To report a rare case of Desbuquois dysplasia Type 1 (DBQD1) diagnosed prenatally, caused by mutations in the CANT1 gene.

Case report

DBQD1 is an autosomal recessive skeletal dysplasia with severe disproportionate dwarfism, joint laxity, and multiple skeletal anomalies. A 26-year-old woman, gravida 3, para 1, abortus 1, was referred due to short femur (FL) and humerus (HL) lengths on ultrasound. The patient and her husband are consanguineous. Ultrasound at our clinic revealed a hypoplastic thorax, severe limb anomalies, brachydactyly, overlapping fingers, clubfoot, and rocker-bottom feet, along with ventricular septal defects (VSDs). Genetic testing identified a homozygous pathogenic variant in the CANT1 gene (c.902_906dup, p.Ser303AlafsTer21). Both parents were heterozygous carriers. Following genetic counseling, the family opted for pregnancy termination.

Conclusion

This case highlights the importance of comprehensive genetic testing and early, precise diagnosis for informed decision-making in managing rare skeletal dysplasias.

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CANT1突变引起的1型desbuquois发育不良的产前诊断和处理：1例报告

目的报道一例罕见的由CANT1基因突变引起的产前诊断为Desbuquois dysplasia 1型（DBQD1）的病例。病例报告：dbqd1是一种常染色体隐性骨骼发育不良，伴严重不成比例的侏儒症、关节松弛和多发性骨骼异常。一名26岁女性，妊娠3期，第1段，流产1，因超声检查股骨（FL）和肱骨（HL）长度短而被转诊。病人和她丈夫是近亲。我们诊所的超声检查显示胸腔发育不全，严重肢体畸形，短指畸形，手指重叠，内翻足，摇底足，以及室间隔缺损（VSDs）。基因检测鉴定出CANT1基因的纯合子致病变异（c.902_906dup, p.Ser303AlafsTer21）。双亲均为杂合携带者。在遗传咨询之后，这家人选择了终止妊娠。结论本病例强调了全面的基因检测和早期准确的诊断对于治疗罕见的骨骼发育不良的知情决策的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.