TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.

ABSTRACT:

Background

TBX5 is a transcription factor that has an important role in development of heart. TBX5 variants in the region encoding the T-box domain have been shown to cause cardiac defects, such as atrial septal defect or ventricular septal defect, while TBX5 variants have also been identified in a few cardiomyopathy patients and considered causative. We identified a TBX5 variant (c.791G>A, p.Arg264Lys), that is over-represented in cardiomyopathy patients. This variant is located outside of the T-box domain, and its pathogenicity has not been confirmed by functional analyses.

Objective

To investigate whether the TBX5 R264K is deleterious and could contribute to the pathogenesis of cardiomyopathy.

Methods and results

We developed mice expressing Tbx5 R264K. Mice homozy

SUBMITTER: Miyao N 

PROVIDER: S-EPMC7112173 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature