Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing
Jinbo Xu, Wei Su, Yishan Wang, Yuanyuan Luo, Fuling Ye, Yanhong Xu, Lulu Chen, Hong Li · 2024
Read Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing by Jinbo Xu, Wei Su, Yishan Wang, Yuanyuan Luo, Fuling Ye, Yanhong Xu, Lulu Chen, Hong Li (2024) 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-11587547.txt.
Description
Jinbo Xu and seven co-authors read the full protein-coding DNA of 280 children whose developmental delay or intellectual disability had no explanation, in this 2024 study. Such children often wait years for a diagnosis, while whole exome sequencing increasingly delivers one by finding a single damaging variant. The question was how often it succeeds, and what predicts success.
Pathogenic variants turned up in seventy-three children, about thirty-six percent of the tested group, including twenty-five cases where whole chunks of chromosome were duplicated or missing. Almost nothing about the child predicted a positive result: not age, sex, birth history, seizures, or scan findings. Oddly, the mode of delivery did correlate. The practical message is broad access: since clinical clues barely sort the winners, offering the test widely beats trying to guess who harbors a findable cause.
Catalog record
| CREATOR | Jinbo Xu, Wei Su, Yishan Wang, Yuanyuan Luo, Fuling Ye, Yanhong Xu, Lulu Chen, Hong Li |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 34 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |