Related Experiment Video
Updated: Jan 29, 2026
04:13
Less-Invasive Technique for Non-stabilized Mandibular Fracture in Mouse Models
Published on: September 27, 2024
876
ADAMTSL1 and mandibular prognathism
Piranit N Kantaputra1,2, Apitchaya Pruksametanan1, Nattapol Phondee3
1Center of Excellence in Medical Genetics Research, Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
Clinical Genetics
|February 5, 2019
Summary
Genetic mutations in ADAMTSL1 cause mandibular prognathism, a condition of a prominent mandible. This study identified specific ADAMTSL1 variants linked to the condition in multiple families.
Area of Science:
- Genetics
- Oral and Maxillofacial Surgery
- Developmental Biology
Background:
- Mandibular prognathism is a skeletal disorder characterized by an overgrowth of the mandible.
- The genetic basis for this condition remains largely unknown, hindering targeted therapeutic development.
Purpose of the Study:
- To identify the specific gene responsible for mandibular prognathism.
- To elucidate the molecular mechanism underlying the condition.
Main Methods:
- Whole exome sequencing was performed on affected individuals from multiple families.
- Mutation analysis was conducted on the ADAMTSL1 gene in unrelated patients.
- Gene expression analysis was performed in mouse models.
Main Results:
- Specific variants in the ADAMTSL1 gene (c.176C>A and c.670C>G) were identified in families with mandibular prognathism.
- The c.670C>G variant was found in multiple independent families and unrelated patients.
- ADAMTSL1 expression was observed in mandibular condylar cartilage but not in long bone cartilage.
Conclusions:
- Mutations in ADAMTSL1 are a significant cause of mandibular prognathism.
- The identified variants likely impair aggrecan cleavage in condylar cartilage, leading to mandibular overgrowth.
- This discovery provides a genetic basis for mandibular prognathism and opens avenues for future research.
