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Article

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Human mutation - 1 Jan 2026

Sun Xiaoyun, Wang Dandan, Wang Shujuan, Wan Rong, Jiang Zhenhong, Zhang Wenqiang, Ouyang Jin, Shen Yang, Hong Kui

Abstract excerpt

The TTN gene encodes a crucial structural protein within cardiac sarcomeres, and its variants may contribute to hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy; however, phenotype and genotype are different. Whole-exome sequencing (WES) was conducted on a Chinese proband diagnosed with HCM. In silico splicing prediction tools and minigene assays were employed to investigate the impact of the...

Read the complete abstract on PubMed

Topics

Humans
Connectin
Male
Adult
Homozygote
Cardiomyopathy, Hypertrophic
RNA Splicing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

RNA Splice Sites

Pedigree

Exome Sequencing

Phenotype

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 42698999
DOI: 10.1155/humu/4229370
PMCID: PMC13542574

Genes

TTN
MYBPC3
MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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