A Novel GDF2 Mutation in a Patient With Hereditary Hemorrhagic Telangiectasia Complicated by Acute Cerebral Infarction
Huaqin Zuo, Lingling Qian, Jian Jing, Lu Wang, Xiaobo Li, Yong Chen, Xuefeng Wang, Qiulan Ding, Jian Gu, Mei Sun · 2026
Read A Novel GDF2 Mutation in a Patient With Hereditary Hemorrhagic Telangiectasia Complicated by Acute Cerebral Infarction by Huaqin Zuo, Lingling Qian, Jian Jing, Lu Wang, Xiaobo Li, Yong Chen, Xuefeng Wang, Qiulan Ding, Jian Gu, Mei Sun (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-13633764.txt.
Description
Huaqin Zuo and nine co-authors report a new gene mutation behind a bleeding disorder, complicated by a stroke, in this 2026 case paper. The disorder, hereditary hemorrhagic telangiectasia, runs in families and malforms blood vessels, causing nosebleeds and visible skin lesions. A gene called GDF2 is a rare cause.
Their patient was a 64-year-old woman whose sudden ischemic stroke was suspected to come from tiny malformed vessels in her lungs. She had the skin lesions, a history of repeated nosebleeds, and a mother with similar signs. Genetic testing found a previously unknown frameshift mutation in GDF2, one copy altered. The authors say the case widens the known clinical picture of this gene's disease. Such reports help clinicians connect a stroke plus bleeding signs to this uncommon diagnosis.
Catalog record
| CREATOR | Huaqin Zuo, Lingling Qian, Jian Jing, Lu Wang, Xiaobo Li, Yong Chen, Xuefeng Wang, Qiulan Ding, Jian Gu, Mei Sun |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 13 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |