Case Report: Neonatal lethality caused by novel compound heterozygous missense variants of SLC6A9 gene
Jianbin Liu, Ke Wu, Yan Ni · 2026
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Description
Jianbin Liu and two colleagues report a newborn death in China tied to two new faulty copies of a gene that moves glycine, a brain chemical, into cells. Faults in this gene cause a form of glycine brain disease, and most affected babies die in their first months. Fewer than ten gene variants had been reported before this case.
Gene reads from amniotic fluid and both parents found the pair of changes, one from each parent. In lab cells, both changes left the gene's message intact yet cut its protein output hard. A review of past cases found shared signs: clubfoot, excess fluid in the womb, and slow growth. The case is China's first documented newborn death from this gene pair.
Catalog record
| CREATOR | Jianbin Liu, Ke Wu, Yan Ni |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 31 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |