Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation

Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Feb;119(2):e77-81. doi: 10.1016/j.oooo.2014.09.003. Epub 2014 Sep 16.


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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Amelogenesis Imperfecta / genetics*
  • Antiporters / genetics*
  • Child
  • Female
  • Humans
  • Mutation, Missense
  • Pedigree
  • Radiography, Panoramic


  • Antiporters
  • SLC24A4 protein, human

Supplementary concepts

  • Amelogenesis Imperfecta hypomaturation type