PAX9 gene mutations and tooth agenesis: A review

Area of Science:

• Genetics
• Developmental Biology
• Oral Biology

Background:

• Paired box 9 (PAX9) is a key transcription factor regulating human tooth development.
• Alterations in PAX9 function can lead to significant defects in tooth formation.
• Over 50 mutations in PAX9 have been identified, primarily associated with dental agenesis.

Purpose of the Study:

• To comprehensively review and catalog all identified mutations within the PAX9 gene.
• To detail the nature and precise genomic locations of these PAX9 mutations.
• To update mutation loci based on current DNA sequence databases.

Main Methods:

• Literature review of published studies on PAX9 mutations.
• Analysis and compilation of reported PAX9 mutation data.
• Cross-referencing mutation loci with current PAX9 gene reference sequences.

Main Results:

• Over 50 distinct mutations in the PAX9 gene have been documented.
• The most frequent clinical manifestation is autosomal-dominant non-syndromic oligodontia/hypodontia.
• Specific loci for each mutation are detailed, with revisions for accuracy.

Conclusions:

• PAX9 mutations are a significant genetic cause of dental agenesis and related tooth development anomalies.
• Accurate cataloging of PAX9 mutations and their loci is crucial for genetic counseling and research.
• This review provides an updated resource on PAX9 genetic variations affecting human dentition.