Dental malformations associated with biallelic MMP20 mutations.

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.

Methods

We characterized 10 AI kindreds with MMP20 defects, characterized human third molars and/or Mmp20^-/- mice by histology, Backscattered Scanning Electron Microscopy (bSEM), µCT, and nanohardness testing.

Results

We identified six novel MMP20 disease-causing mutations. Four pathogenic variants were associated with exons encoding the MMP20 hemopexin-like

SUBMITTER: Wang SK 

PROVIDER: S-EPMC7434610 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature