Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report.
4q34.3 microdeletion
Milroy-like disease
VEGFC haploinsufficiency
prenatal diagnosis
primary lymphedema
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
revised:
08
08
2022
received:
29
05
2022
accepted:
24
08
2022
pubmed:
22
9
2022
medline:
15
11
2022
entrez:
21
9
2022
Statut:
ppublish
Résumé
Deleterious variants in the vascular endothelial growth factor C (VEGFC) gene have been recently associated with Milroy-like primary lymphedema, an autosomal dominant disorder, characterized mainly by swelling of the lower limbs due to functional impairment of the lymphatic vessels. To date, only 26 patients with congenital lymphedema harboring VEGFC pathogenic variants were documented. Here, we describe the first prenatal case of a fetus with Milroy-like disease. Fetal ultrasound showed bilateral foot swelling. Chromosomal microarray analysis revealed a 137-kb copy number loss in 4q34.3 including only VEGFC gene in the propositus fetus. Segregation analysis showed that the deletion was inherited from the affected mother and grandmother. Taken together, our study highlights the important role of microarray analysis to detect subtle chromosomal imbalances in the prenatal setting and contributes to delineate the fetal phenotype of VEGFC-related primary congenital lymphedema.
Identifiants
pubmed: 36129367
doi: 10.1002/ajmg.a.62973
doi:
Substances chimiques
Vascular Endothelial Growth Factor C
0
VEGFC protein, human
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
3550-3554Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
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