Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation

Curtis R Herzog; Bryan M Reid; Figen Seymen; Mine Koruyucu; Elif Bahar Tuna; James P Simmer; Jan C-C Hu

doi:10.1016/j.oooo.2014.09.003

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.

Authors

Curtis R Herzog¹, Bryan M Reid¹, Figen Seymen², Mine Koruyucu², Elif Bahar Tuna², James P Simmer³, Jan C-C Hu¹

Affiliations

¹ Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA.
² Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
³ Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA. Electronic address: [email protected].

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.

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

Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation

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