Root dentin anomaly and a PLG mutation

Eur J Med Genet. 2014 Nov-Dec;57(11-12):630-5. doi: 10.1016/j.ejmg.2014.09.006. Epub 2014 Sep 30.

Abstract

We report a Thai girl affected with plasminogen deficiency, Type I. Ligneous conjunctivitis was first observed when she was one-month-old. The newly recognized findings include tapered incisor roots as a result of thin root dentin, generalized short tooth roots, and mandibular prognathism. Mutation analysis of PLG demonstrated homozygous c.1193G>A missense mutation. The parents were heterozygous for c.1193G>A mutation. The c.1193G>A mutation is novel and predicted to cause amino acid substitution p.Cys398Tyr. Thin root dentin in the patient who was affected with PLG mutation and immunolocalization of Plg during early root development in mice imply the role of plasminogen in root dentin formation.

Keywords: Dental morphology; Dentin formation; Dentinogenesis; Plasminogen; Root development; Tooth development.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Child
  • Conjunctivitis / diagnosis*
  • Conjunctivitis / genetics
  • Conjunctivitis / surgery
  • DNA Mutational Analysis
  • Dentin / abnormalities
  • Dentin / diagnostic imaging*
  • Female
  • Genetic Association Studies
  • Homozygote
  • Humans
  • Mice
  • Mutation, Missense
  • Plasminogen / deficiency*
  • Plasminogen / genetics*
  • Radiography
  • Skin Diseases, Genetic / diagnosis*
  • Skin Diseases, Genetic / genetics
  • Skin Diseases, Genetic / surgery
  • Tooth Abnormalities / diagnostic imaging*
  • Tooth Abnormalities / genetics
  • Tooth Root / abnormalities
  • Tooth Root / diagnostic imaging

Substances

  • Plasminogen

Supplementary concepts

  • Plasminogen Deficiency, Type I