A novel frameshift RPL15 gene variant associated with hydrops fetalis and perinatal death
Xiaoling Chen, Ke Wu, Bo Zhu · 2026
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Description
Xiaoling Chen and two colleagues identify a previously unreported variant in the RPL15 gene in a fetus with hydrops fetalis, a dangerous build-up of fluid, who died before birth. Variants in this gene cause a form of Diamond-Blackfan anaemia, and fewer than ten had been described, often with fetal fluid build-up and growth restriction.
Sequencing the fetus and both parents revealed a frameshift change that deletes a single letter of the gene's code. Laboratory tests showed the altered message decays faster and yields far less protein, explaining the severity. Reviewing earlier cases, the authors note heart defects and reduced fetal movement as recurring features, and they describe this as the first documented perinatal death tied to the gene.
Catalog record
| CREATOR | Xiaoling Chen, Ke Wu, Bo Zhu |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 31 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |