Inferring disease course from differential exon usage in the wide titinopathy spectrum.

ABSTRACT:

Objective

Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis and precise disease prognosis remains challenging.

Methods

In this case series, 12 unpublished cases and one already published case with biallelic TTNtv were collected from multiple international medical centers between November 2022 and September 2023. TTN mutations were detected through exome or genome sequencing. Information about familial and personal clinical history was collected in a standardized form. RNA-sequencing and analysis

SUBMITTER: Di Feo MF 

PROVIDER: S-EPMC11514934 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature