Two rare PROX1 variants in patients with lymphedema.

ABSTRACT:

Background

The PROX1 gene is specifically expressed in a subpopulation of endothelial cells that, by budding and sprouting, give rise to the lymphatic system. It also plays a critical role in neurogenesis and during development of many organs, such as the eye lens, liver, and pancreas.

Methods

We used next-generation sequencing (NGS) to sequence the DNA of a cohort of 246 Italian patients with lymphatic malformations. We first investigated 29 known disease-causing genes: 235 of 246 patients tested negative and were then retested for a group of candidate genes, including PROX1, selected from a database of mouse models. The aim of the study was to define these patients' genotypes and explore the role of the candidate gene PROX1 in lymphedema.

Results

Two of 235 probands

SUBMITTER: Ricci M 

PROVIDER: S-EPMC7549596 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature