Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family.

ABSTRACT:

Background

The lymphatic system is essential for maintaining the balance of interstitial fluid in tissues and for returning protein-rich fluids (lymph) to the bloodstream. Congenital lymphatic defects lead to accumulation of lymph in peripheral tissues and body cavities, termed primary lymphedema. To date, only a limited number of individual genes have been identified in association with primary lymphedema. However, variability of age of onset and severity of lymphatic abnormalities within some families suggests that multiple mutations or genes may be responsible, thus hampering efforts to identify individual associated genes.

Methods

Whole exome sequencing (WES) was performed in 4 members of a large multigeneration family with highly variable lymphedema and followed by Sang

SUBMITTER: Mustacich DJ 

PROVIDER: S-EPMC8939301 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature