Exonal Deletion of SLC24A4 Causes Hypomaturation Amelogenesis Imperfecta

Seymen F., LEE K. -., LE C. G. T., Yıldırım M. S., Gencay K., LEE Z. H., ...More

JOURNAL OF DENTAL RESEARCH, vol.93, no.4, pp.366-370, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 93 Issue: 4
  • Publication Date: 2014
  • Doi Number: 10.1177/0022034514523786
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.366-370
  • Keywords: hereditary, recombination, malformation, enamel, maturation, tooth, FAM20A MUTATIONS, IDENTIFICATION, EXCHANGER, NCKX4, ENAMEL
  • Istanbul University Affiliated: Yes


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.