Functional Validation of a Novel Homozygous TTN Splice‐Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy
Xiaoyun Sun, Dandan Wang, Shujuan Wang, Rong Wan, Zhenhong Jiang, Wenqiang Zhang, Jin Ouyang, Yang Shen, Kui Hong · 2026
Read Functional Validation of a Novel Homozygous TTN Splice‐Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy by Xiaoyun Sun, Dandan Wang, Shujuan Wang, Rong Wan, Zhenhong Jiang, Wenqiang Zhang, Jin Ouyang, Yang Shen, Kui Hong (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13542574.txt.
Description
Xiaoyun Sun and co-authors report a 2026 study that functionally tests a new variant in the titin gene. Titin is a giant spring protein in heart muscle, and its gene, TTN, is tied to both thickened and stretched heart disease. Linking one variant to one disease is often uncertain.
Whole-exome sequencing of a 42-year-old Chinese man with thickened heart muscle found the variant in both gene copies. It was predicted to delete fourteen bases at a splice site, scrambling how the message is cut. His two children carry one copy each and show no symptoms. Computer tools flagged the change, but guidelines left it uncertain. A minigene test in the lab then proved the splicing goes wrong as predicted. That proof upgraded the variant's standing for diagnosis.
Catalog record
| CREATOR | Xiaoyun Sun, Dandan Wang, Shujuan Wang, Rong Wan, Zhenhong Jiang, Wenqiang Zhang, Jin Ouyang, Yang Shen, Kui Hong |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 37 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |