Clinical characterization and developmental follow-up of a child with Sotos syndrome carrying a novel NSD1 variant
Huanqi Tang, Wenjin Feng, Ruyu Tan, Shihao Ren, Xiaohui Kong, Long Zhang, Xiufang Jiang, Huabin Wang · 2026
Read Clinical characterization and developmental follow-up of a child with Sotos syndrome carrying a novel NSD1 variant by Huanqi Tang, Wenjin Feng, Ruyu Tan, Shihao Ren, Xiaohui Kong, Long Zhang, Xiufang Jiang, Huabin Wang (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/PMC13491777.txt.
Description
Huanqi Tang and seven colleagues follow in 2026 a toddler with Sotos syndrome, an overgrowth and intellectual disability condition, who carried a gene variant never reported before. The seventeen-month-old boy showed the classic facial features of the syndrome along with severe speech and motor delay. Gene sequencing found a brand-new change in NSD1 that cuts the protein short and removes several working domains.
Despite continuous rehabilitation, the boy's developmental score slipped from the mid-forties to about forty by twenty-eight months, an unusually slow trajectory for this syndrome. Brain imaging showed an underdeveloped corpus callosum, the bridge between brain halves, and reduced white matter. The authors present the case as a warning that some variants bring heavier disability, strengthening the case for early genetic diagnosis and long multidisciplinary follow-up.
Catalog record
| CREATOR | Huanqi Tang, Wenjin Feng, Ruyu Tan, Shihao Ren, Xiaohui Kong, Long Zhang, Xiufang Jiang, Huabin Wang |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 23410 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |