Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.

Authors :: Herzog CR
Reid BM
Seymen F
Koruyucu M
Tuna EB
Simmer JP
Hu JC
Source :: Oral surgery, oral medicine, oral pathology and oral radiology [Oral Surg Oral Med Oral Pathol Oral Radiol] 2015 Feb; Vol. 119 (2), pp. e77-81. Date of Electronic Publication: 2014 Sep 16.
Publication Year :: 2015
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.<br /> (Copyright © 2015 Elsevier Inc. All rights reserved.)