Scholarlink

Background <p>Mandibulofacial dysostosis, Guion-Almeida type is an autosomal dominant disorder characterized by craniofacial malformations and intellectual disability. Pathogenic <i>EFTUD2</i> variants represent the primary genetic etiology of Mandibulofacial dysostosis, Guion-Almeida type. In this report, we describe a family with Mandibulofacial dysostosis, Guion-Almeida type, where two consecutive singleton pregnancies were affected due to the presence of a novel <i>EFTUD2</i> variant in their mosaic mother.</p> Case presentation <p>A 30-year-old Han Chinese pregnant woman (gravida 3, para 0) chose amniocentesis for genetic diagnosis at 19&#xa0;weeks and&#xa0;4&#xa0;days of gestation due to the presence of a pathogenic <i>EFTUD2</i> variant [NM_004247.4:c.2444_2445del (p.V815Gfs*69)] in her second fetus. Copy number variation sequencing detected no chromosomal aneuploidies or copy number variations. However, the c.2444_2445del variant was once again identified in her third fetus via whole exome sequencing. Sanger sequencing results unexpectedly detected that the woman displayed low-level mosaicism of this variant. Finally, the woman decided to terminate the pregnancy at 23&#xa0;weeks and 3 days of gestation. The literature review indicated isolated or nonisolated prenatal ultrasound abnormalities, such as micrognathia, polyhydramnios, a small or absent stomach bubble, and microcephaly, may serve as valuable indications for prenatal diagnosis of Mandibulofacial dysostosis, Guion-Almeida type.</p> Conclusion <p>This family case expands the mutational spectrum of Mandibulofacial dysostosis, Guion-Almeida type and highlights familial occurrence of mosaicism in parents without Mandibulofacial dysostosis, Guion-Almeida type symptoms. Therefore, comprehensive genetic counseling and consideration of prenatal testing for subsequent pregnancies are advised.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年1月12日

查看全文
  • Bing Wang,
  • Chunxiao Hua,
  • Qimeng Liu,
  • Dajun Cai

摘要

Background

Mandibulofacial dysostosis, Guion-Almeida type is an autosomal dominant disorder characterized by craniofacial malformations and intellectual disability. Pathogenic EFTUD2 variants represent the primary genetic etiology of Mandibulofacial dysostosis, Guion-Almeida type. In this report, we describe a family with Mandibulofacial dysostosis, Guion-Almeida type, where two consecutive singleton pregnancies were affected due to the presence of a novel EFTUD2 variant in their mosaic mother.

Case presentation

A 30-year-old Han Chinese pregnant woman (gravida 3, para 0) chose amniocentesis for genetic diagnosis at 19 weeks and 4 days of gestation due to the presence of a pathogenic EFTUD2 variant [NM_004247.4:c.2444_2445del (p.V815Gfs*69)] in her second fetus. Copy number variation sequencing detected no chromosomal aneuploidies or copy number variations. However, the c.2444_2445del variant was once again identified in her third fetus via whole exome sequencing. Sanger sequencing results unexpectedly detected that the woman displayed low-level mosaicism of this variant. Finally, the woman decided to terminate the pregnancy at 23 weeks and 3 days of gestation. The literature review indicated isolated or nonisolated prenatal ultrasound abnormalities, such as micrognathia, polyhydramnios, a small or absent stomach bubble, and microcephaly, may serve as valuable indications for prenatal diagnosis of Mandibulofacial dysostosis, Guion-Almeida type.

Conclusion

This family case expands the mutational spectrum of Mandibulofacial dysostosis, Guion-Almeida type and highlights familial occurrence of mosaicism in parents without Mandibulofacial dysostosis, Guion-Almeida type symptoms. Therefore, comprehensive genetic counseling and consideration of prenatal testing for subsequent pregnancies are advised.