Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.

ABSTRACT:

Background

Variants in TTN are frequently identified in the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to the high frequency of TTN variants in the general population, incomplete penetrance, and limited understanding of the spectrum of disease, interpretation of TTN variants is often difficult for laboratories and clinicians. Currently, cardiomyopathy is associated with heterozygous A-band TTN variants, whereas skeletal myopathy is largely associated with homozygous or compound heterozygous TTN variants. Recent reports show pathogenic variants in TTN may result in a broader phenotypic spectrum than previously recognized.

Methods

Here we report the results of a multisite study that characterized the phenotypes of probands with variants in TTN. We

SUBMITTER: Rich KA 

PROVIDER: S-EPMC7549586 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature