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Novel PAX9 Mutations Causing Isolated Oligodontia.

Ye Ji Lee1, Yejin Lee1, Youn Jung Kim1

  • 1Department of Pediatric Dentistry & DRI, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea.

Journal of Personalized Medicine
|February 23, 2024
PubMed
Summary

Two novel PAX9 gene mutations were identified in families with non-syndromic oligodontia, a rare tooth development disorder. A silent mutation disrupted normal RNA splicing, expanding the known genetic causes of oligodontia.

Keywords:
PAX9hereditaryoligodontiasilent mutationsplicing mutation

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Area of Science:

  • Genetics
  • Developmental Biology
  • Oral Health

Background:

  • Oligodontia, the congenital absence of six or more teeth, is a rare disorder.
  • While various genes are implicated, the genetic basis for non-syndromic oligodontia requires further elucidation.

Purpose of the Study:

  • To identify novel genetic mutations causing non-syndromic oligodontia.
  • To investigate the functional impact of identified mutations on PAX9 gene expression and splicing.

Main Methods:

  • Whole-exome sequencing and Sanger sequencing for mutation identification.
  • Minigene splicing assays to assess pre-mRNA splicing alterations.
  • Protein expression analysis, luciferase activity assays, and immunolocalization studies.

Main Results:

  • Two novel PAX9 mutations were identified in two independent non-syndromic oligodontia families: a silent mutation (c.771G>A) and a frameshift mutation (c.637dup).
  • The silent PAX9 mutation led to aberrant pre-mRNA splicing, including exon 4 deletion and cryptic splice site usage.
  • Functional assays confirmed the detrimental effects of the identified mutations on PAX9 function.

Conclusions:

  • This study expands the spectrum of PAX9 mutations associated with non-syndromic oligodontia.
  • The findings highlight the critical role of proper RNA splicing for PAX9 function in tooth development and offer insights for genetic diagnostics.