DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.

ABSTRACT:

Background

Cilia are dynamic cellular extensions that generate and sense signals to orchestrate proper development and tissue homeostasis. They rely on the underlying polarisation of cells to participate in signalling. Cilia dysfunction is a well-known cause of several diseases that affect multiple organ systems including the kidneys, brain, heart, respiratory tract, skeleton and retina.

Methods

Among individuals from four unrelated families, we identified variants in discs large 5 (DLG5) that manifested in a variety of pathologies. In our proband, we also examined patient tissues. We depleted dlg5 in Xenopus tropicalis frog embryos to generate a loss-of-function model. Finally, we tested the pathogenicity of DLG5 patient variants through r

SUBMITTER: Marquez J 

PROVIDER: S-EPMC7785698 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature