Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.

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.

• Authors: Curtis R Herzog, Bryan M Reid, Figen Seymen, Mine Koruyucu, Elif Bahar Tuna, James P Simmer, Jan C-C Hu
• Journal: Oral surgery, oral medicine, oral pathology and oral radiology (Oral Surg Oral Med Oral Pathol Oral Radiol) Vol. 119 Issue 2 Pg. e77-81 (Feb 2015) ISSN: 2212-4411 [Electronic] United States
• PMID: 25442250 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)
• Copyright: Copyright © 2015 Elsevier Inc. All rights reserved.

Chemical References

• Antiporters
• SLC24A4 protein, human

Topics

• Amelogenesis Imperfecta (genetics)
• Antiporters (genetics)
• Child
• Female
• Humans
• Mutation, Missense
• Pedigree
• Radiography, Panoramic