Novel MSX1 Gene Variants in Chinese Children with Non-Syndromic Tooth Agenesis: A Clinical and Genetic Analysis
Tingting Ding, Haochen Liu, Guoxia Yu, Sreekanth Kumar Mallineni · 2024
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Description
Tingting Ding and co-authors report two new variants in a gene that guides tooth growth, found in Chinese children born missing some teeth, in a 2024 study. Missing teeth are the most common inherited quirk of dental development, and the gene, MSX1, is a known culprit when the loss has no wider syndrome. The team studied two affected children in depth.
Both new variants sit in the gene's second block and were judged harmful by checks on how conserved the spots are across species and by models of the protein's shape. A review of 108 known cases showed second premolars are the teeth most often missing. The findings widen the gene's known variant list for counseling families.
Catalog record
| CREATOR | Tingting Ding, Haochen Liu, Guoxia Yu, Sreekanth Kumar Mallineni |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 26 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |