September 10, 2025Cardiovascular Research

Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants

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Authors

TITaisuke IshikawaKagoshima University Hospital HKHiroki KimotoUniversity of Nagasaki ASAkiko SekiTokyo Women's Medical University

Discussion

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Implication

Genome-wide sequencing identifies titin splice-site variants in cardiac dysfunction patients, suggesting deeper links. Expression profiles reveal complex splicing implications.

Key Points

A rare titin canonical splice-site variant is associated with cardiac conduction disturbance in a five-generation family.
Genome-wide sequencing confirmed multiple titin splice-site variants in patients, indicating a relationship with dilated cardiomyopathy.
RNA-Seq and minigene assays demonstrated significant non-truncating and truncating transcripts from identified titin variants.
Transcriptional profiles suggest that variations in titin may lead to distinct cardiac dysfunction outcomes requiring further study.

Cite This Study

Ishikawa et al. (2025) studied this question.

synapsesocial.com/papers/68c24126b210217d6479d60b https://doi.org/10.1093/cvr/cvaf135

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Implication

Genome-wide sequencing identifies titin splice-site variants in cardiac dysfunction patients, suggesting deeper links. Expression profiles reveal complex splicing implications.