title: 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.affiliation: Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA.
authors.forename: Curtis R
authors.initials: CR
authors.lastname: Herzog
authors.affiliation: Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA.
authors.forename: Bryan M
authors.initials: BM
authors.lastname: Reid
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: Figen
authors.initials: F
authors.lastname: Seymen
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: Mine
authors.initials: M
authors.lastname: Koruyucu
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: Elif Bahar
authors.initials: EB
authors.lastname: Tuna
authors.affiliation: Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA. Electronic address: Jsimmer@umich.edu.
authors.forename: James P
authors.initials: JP
authors.lastname: Simmer
authors.affiliation: Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA.
authors.forename: Jan C-C
authors.initials: JC
authors.lastname: Hu
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D011862:Radiography, Panoramic
chemical_list: D017920:Antiporters; C470570:SLC24A4 protein, human