A Novel LAS1L Gene Mutation Associated with Impaired Growth and Developmental Delay and a Review with Previously Reported Cases
Niusha Mostafavi, Anran Tian, Yuan Gao, Yingying Li, Furong Liang, Cai Zhang, Xiaoping Luo · 2026
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Description
A boy's stunted growth and developmental delay traced to a gene never before seen mutated in this way, report Niusha Mostafavi and colleagues in a 2026 case study. The six-year-old had early delays and mild scoliosis but none of the classic facial or body features of Wilson-Turner syndrome.
Exome sequencing found a new frameshift change in the LAS1L gene, inherited from his symptom-free mother and absent from population databases. Cell experiments suggested the variant weakens the protein, which helps build ribosomes. The authors argue LAS1L testing belongs in the workup of unexplained growth failure or delay even without the syndrome's textbook signs, and they review earlier reported cases.
Catalog record
| CREATOR | Niusha Mostafavi, Anran Tian, Yuan Gao, Yingying Li, Furong Liang, Cai Zhang, Xiaoping Luo |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 26895 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |