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Multiple Cervical Root Resorption Involving 22 Teeth: A Case with Potential Genetic Predisposition.

Wen Qin1, Jing Gao1, Sai Ma1

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|October 21, 2022
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Summary

A rare case of extensive multiple idiopathic cervical root resorption in a young male was detailed. A novel FLNA gene mutation suggests a potential genetic link to this aggressive dental condition.

Keywords:
Cervical root resorptionfilamin Amissense mutationwhole-exome sequencing

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Area of Science:

  • Dentistry
  • Genetics
  • Oral Pathology

Background:

  • Idiopathic cervical root resorption is a rare dental condition characterized by tooth structure loss.
  • Potential genetic factors underlying extensive cases of cervical root resorption remain largely unexplored.

Observation:

  • A healthy 19-year-old male presented with masticatory pain and significant tooth loss.
  • Oral examination revealed external cervical root resorption in 9 teeth, progressing to 22 teeth within 9 months.
  • Laboratory results were within normal limits, ruling out systemic causes.

Findings:

  • Trio-based whole-exome sequencing identified a missense mutation (c.5630 C>T) in the filamin A (FLNA) gene on the X chromosome.
  • This mutation suggests a possible sex-linked recessive inheritance pattern for the condition.
  • This is the first report linking FLNA gene mutations to human cases of multiple cervical root resorption.

Implications:

  • The findings suggest a potential genetic predisposition to extensive idiopathic cervical root resorption.
  • Identifying the FLNA gene mutation opens new avenues for understanding the pathogenesis of this dental anomaly.
  • Further research into FLNA's role could lead to improved diagnostic and therapeutic strategies for affected individuals.