New MSX1 Gene Variants Linked to Missing Teeth in Chinese Children
Author Information
Author(s): Ding Tingting, Liu Haochen, Yu Guoxia, Mallineni Sreekanth Kumar
Primary Institution: Peking University School and Hospital of Stomatology
Hypothesis
The congenital tooth agenesis in these patients was caused by MSX1 gene variants.
Conclusion
This research broadens the known range of MSX1 gene variants and enhances understanding of the genetic basis of non-syndromic tooth agenesis.
Supporting Evidence
- Two novel MSX1 variants were identified in the study.
- The most frequently missing teeth were the maxillary second premolars, mandibular second premolars, and maxillary first premolars.
- Conservation analysis showed that the impacted amino acids are highly conserved across species.
Takeaway
Some kids are missing teeth because of changes in a specific gene called MSX1, and this study found two new changes in that gene.
Methodology
The study involved genetic analysis of two children with tooth agenesis and a review of 108 patients with known MSX1 variants.
Limitations
Functional experiments were not conducted to elucidate the specific mechanisms by which MSX1 gene variants lead to congenital tooth agenesis.
Participant Demographics
Two families with children affected by non-syndromic tooth agenesis.
Statistical Information
P-Value
<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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