title: Exonal deletion of SLC24A4 causes hypomaturation amelogenesis imperfecta.
abstract: Amelogenesis imperfecta is a heterogeneous group of genetic conditions affecting enamel formation. Recently, mutations in solute carrier family 24 member 4 (SLC24A4) have been identified to cause autosomal recessive hypomaturation amelogenesis imperfecta. We recruited a consanguineous family with hypomaturation amelogenesis imperfecta with generalized brown discoloration. Sequencing of the candidate genes identified a 10-kb deletion, including exons 15, 16, and most of the last exon of the SLC24A4 gene. Interestingly, this deletion was caused by homologous recombination between two 354-bp-long homologous sequences located in intron 14 and the 3' UTR. This is the first report of exonal deletion in SLC24A4 providing confirmatory evidence that the function of SLC24A4 in calcium transport has a crucial role in the maturation stage of amelogenesis.
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Seymen
authors.forename: K-E
authors.initials: KE
authors.lastname: Lee
authors.forename: C G
authors.initials: CG
authors.lastname: Tran Le
authors.forename: M
authors.initials: M
authors.lastname: Yildirim
authors.forename: K
authors.initials: K
authors.lastname: Gencay
authors.forename: Z H
authors.initials: ZH
authors.lastname: Lee
authors.forename: J-W
authors.initials: JW
authors.lastname: Kim
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D020029:Base Pairing / Q000235:genetics; D002648:Child; D055028:Comparative Genomic Hybridization; D003241:Consanguinity; D005091:Exons / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D010375:Pedigree
chemical_list: D020413:3' Untranslated Regions; D017920:Antiporters; C470570:SLC24A4 protein, human
keywords: enamel; hereditary; malformation; maturation; recombination; tooth