A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosis
Ai-Qian Zhang, Jie-Yi Long, Wei Xue, Rong Yu, Lei Zhu, Liang-Liang Fan · 2026
Read A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosis by Ai-Qian Zhang, Jie-Yi Long, Wei Xue, Rong Yu, Lei Zhu, Liang-Liang Fan (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-13342524.txt.
Description
Ai-Qian Zhang and five co-authors report a family study from two thousand twenty-six on a rare change in the GATA4 gene. Some members of a Chinese family had an atrial septal defect, a hole in the heart wall, and a narrowed lung valve. Healthy members did not carry the same change.
The team used whole exome sequencing and Sanger sequencing to search for the cause, then tested the change in a cell line. Tests showed the change harmed the protein, made it less stable, and cut its power to switch on target genes. The work points to one part of the protein as key for heart growth. It may also help with genetic advice for such families.
Catalog record
| CREATOR | Ai-Qian Zhang, Jie-Yi Long, Wei Xue, Rong Yu, Lei Zhu, Liang-Liang Fan |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 25 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |