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.