Exonal Deletion of SLC24A4 Causes Hypomaturation Amelogenesis Imperfecta

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

JOURNAL OF DENTAL RESEARCH, cilt.93, sa.4, ss.366-370, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 93 Sayı: 4
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1177/0022034514523786
  • Dergi Adı: JOURNAL OF DENTAL RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.366-370
  • Anahtar Kelimeler: hereditary, recombination, malformation, enamel, maturation, tooth, FAM20A MUTATIONS, IDENTIFICATION, EXCHANGER, NCKX4, ENAMEL
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.