Titin copy number variations associated with dominant inherited phenotypes.

ABSTRACT:

Background

Titinopathies are caused by mutations in the titin gene (TTN). Titin is the largest known human protein; its gene has the longest coding phase with 364 exons. Titinopathies are very complex neuromuscular pathologies due to the variable age of onset of symptoms, the great diversity of pathological and muscular impairment patterns (cardiac, skeletal muscle or mixed) and both autosomal dominant and recessive modes of transmission. Until now, only few CNVs in TTN have been reported without clear genotype-phenotype associations.

Methods

Our study includes eight families with dominant titinopathies. We performed next-generation sequencing or comparative genomic hybridisation array analyses and found CNVs in the TTN gene. We characterised these CNVs

SUBMITTER: Perrin A 

PROVIDER: S-EPMC10957311 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature