Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation


HERZOG C. R. , Reid B. M. , Seymen F. , Koruyucu M., Tuna E. B. , SIMMER J. P. , ...More

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY, vol.119, no.2, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 119 Issue: 2
  • Publication Date: 2015
  • Doi Number: 10.1016/j.oooo.2014.09.003
  • Title of Journal : ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY

Abstract

In this case report of autosomal recessive pigmented hypomaturation amelogenesis imperfecta (AI), we identify a novel homozygous missense mutation (g.165151 T>G; c.1317 T>G; p.Leu436 Arg) in SLC24A4, a gene encoding a potassium- dependent sodium- calcium exchanger that is critical for hardening dental enamel during tooth development.