Dental malformations associated with biallelic MMP20 mutations

Wang S., Zhang H., Chavez M. B., Hu Y., Seymen F., Koruyucu M., ...More

MOLECULAR GENETICS & GENOMIC MEDICINE, vol.8, no.8, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 8
  • Publication Date: 2020
  • Doi Number: 10.1002/mgg3.1307
  • Journal Name: MOLECULAR GENETICS & GENOMIC MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, EMBASE, MEDLINE, Directory of Open Access Journals
  • Keywords: amelogenesis imperfecta, dentin defects, enamel hardness, hypomineralization, MMP20 mutations
  • Istanbul University Affiliated: Yes

Abstract

Background Matrix metallopeptidase 20 (MMP20) is an evolutionarily conserved protease that is essential for processing enamel matrix proteins during dental enamel formation. MMP20 mutations cause human autosomal recessive pigmented hypomaturation-type amelogenesis imperfecta (AI2A2; OMIM #612529). MMP20 is expressed in both odontoblasts and ameloblasts, but its function during dentinogenesis is unclear.