Evidence map›Paper›PMID 41328432›Full record

ArticleFrontiers in genetics2025

Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutations in a fetus.

Shanshan Zhai, Limin Yuan, Jing Li, Ling Liu, Lulu Hu, Yanjie Ban, Xuewen Yang, Jie Yang, Xuezhe Ouyang, Nana Huang and 3 more

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Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

13 authors.

Shanshan ZhaiMedical Genetics and Prenatal Diagnosis Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Limin YuanMedical Genetics and Prenatal Diagnosis Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Jing LiMedical Genetics and Prenatal Diagnosis Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Ling LiuMedical Genetics and Prenatal Diagnosis Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Lulu HuObstetric Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Yanjie BanObstetric Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Xuewen YangMedical Genetics and Prenatal Diagnosis Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Jie YangMedical Genetics and Prenatal Diagnosis Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Xuezhe OuyangMedical Genetics and Prenatal Diagnosis Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Nana HuangMedical Genetics and Prenatal Diagnosis Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Yuan TianMedical Genetics and Prenatal Diagnosis Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Ting WangMedical Genetics and Prenatal Diagnosis Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Xiao KongMedical Genetics and Prenatal Diagnosis Department, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: The purpose of this retrospective study was to investigate the imaging phenotype and genetic variation of three fetuses with FLT4 gene mutations in three families. Method: Ultrasound images of the three affected fetuses were collected; fetal specimens were obtained by amniocentesis, and peripheral blood samples were collected from both parents for whole-exome sequencing (WES) and copy number variation sequencing (CNV-seq). Result: The primary prenatal imaging phenotype of fetuses from three families showed bilateral lower limb and foot dorsum lymphedema. Genetic testing identified a paternal c.3122G>A (p.R1041Q) heterozygous variant of the FLT4 gene (NM_182925.5) in the family 1 fetus, a paternal c.3284G>A (p.S1095N) heterozygous variant of the FLT4 gene (NM_182925.5) in the family 2 fetus, and a maternal c.2560G>A (p.G854S) heterozygous variant of the FLT4 gene (NM_182925.5) in the family 3 fetus. Postpartum follow-up: the fetus in family 1 mainly presented with bilateral foot dorsum lymphedema at birth, which improved significantly after surgical treatment at 1 month of age; the fetus in family 2 had mild lymphedema in both feet at birth, which significantly subsided at 18 months of age; the pregnancy was terminated in family 3. Discussion: 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.

Indexed as

fetusFLT4 genegenetic variationimaging phenotypeprenatal diagnosisprimary congenital lymphedema

Identifiers

PMID41328432
PMCPMC12665350

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