Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutations in a fetus
Bilateral lower limb lymphedema is a typical clinical manifestation during the fetal stage. Some cases follow a benign course of natural regression, whereas some cases achieve a good prognosis via surgical intervention. The FLT4 c.3284G>A variant identified in this study has not been previously reported, which broadens the mutation spectrum of this gene. In this study, we provide valuable insights for prenatal diagnosis, genetic counseling, and prognosis evaluation of the disease.
Authors
- Jie Yang (ORCID: https://orcid.org/0000-0002-8348-7250)
- Lulu Hu
- Shanshan Zhai (ORCID: https://orcid.org/0000-0002-1246-342X)
- Kong Xiao
- Yuan Tian (ORCID: https://orcid.org/0000-0003-1419-4806)
- Nana Huang (ORCID: https://orcid.org/0009-0008-6445-1958)
- Xuewen Yang (ORCID: https://orcid.org/0000-0002-9420-1625)
- Yanjie Ban (ORCID: https://orcid.org/0000-0002-2204-769X)
- Xuezhe Ouyang
- Jing Li (ORCID: https://orcid.org/0000-0002-9285-9423)
- Ling Liu
- Ting Wang (ORCID: https://orcid.org/0009-0001-0625-6563)
- Limin Yuan
Institutions
- Third Affiliated Hospital of Zhengzhou University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-16
- DOI
- https://doi.org/10.3389/fgene.2025.1700635
- Primary Topic
- Lymphatic System and Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00