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Root dentin anomaly and a PLG mutation.

Napaporn Tananuvat1, Pimlak Charoenkwan2, Atsushi Ohazama3

  • 1Department of Ophthalmology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

European Journal of Medical Genetics
|October 5, 2014
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Summary

Plasminogen deficiency (PLG) in a Thai girl caused ligneous conjunctivitis and unique dental issues like thin root dentin. This suggests plasminogen is crucial for healthy tooth root development.

Keywords:
Dental morphologyDentin formationDentinogenesisPlasminogenRoot developmentTooth development

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Area of Science:

  • Genetics
  • Dentistry
  • Ophthalmology

Background:

  • Plasminogen deficiency (PLG) is a rare genetic disorder.
  • Type I PLG is characterized by ligneous conjunctivitis, a chronic inflammatory condition.

Observation:

  • A Thai girl presented with Type I PLG and ligneous conjunctivitis from one month of age.
  • New dental findings included tapered incisor roots due to thin root dentin, generalized short tooth roots, and mandibular prognathism.

Findings:

  • Genetic analysis revealed a novel homozygous c.1193G>A missense mutation in the PLG gene, predicted to cause p.Cys398Tyr substitution.
  • Parents were heterozygous for the same mutation, confirming autosomal recessive inheritance.
  • The patient exhibited thin root dentin, a previously unreported dental manifestation of PLG.

Implications:

  • This case highlights the significant role of plasminogen in root dentin formation.
  • Further research into plasminogen's function during odontogenesis is warranted.
  • Understanding PLG's role may lead to new therapeutic strategies for dental anomalies.