MMP20 Hemopexin Domain Mutation in Amelogenesis Imperfecta
- 4 December 2009
- journal article
- case report
- Published by SAGE Publications in Journal of Dental Research
- Vol. 89 (1), 46-50
- https://doi.org/10.1177/0022034509352844
Abstract
Proteolytic enzymes serve important functions during dental enamel formation, and mutations in the kallikrein 4 (KLK4) and enamelysin (MMP20) genes cause autosomal-recessive amelogenesis imperfecta (ARAI). So far, only 1 KLK4 and 3 MMP20 mutations have been reported in ARAI kindreds. To determine whether ARAI in a family with a hypomaturation-type enamel defect is caused by mutations in the genes encoding enamel proteolytic enzymes, we performed mutational analysis on candidate genes. Mutational and haplotype analyses revealed an ARAI-causing point mutation (c.910G>A, p.A304T) in exon 6 of MMP20 that results in a single amino acid substitution in the hemopexin domain. Western blot analysis showed decreased expression of the mutant protein, but zymogram analysis demonstrated that this mutant was a functional protein. The proband and an affected brother were homozygous for the mutation, and both unaffected parents were carriers. The enamel of newly erupted teeth had normal thickness, but was chalky white and became darker with age.Keywords
This publication has 22 references indexed in Scilit:
- Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfectaClinical Genetics, 2009
- Mutational spectrum ofFAM83H: the C-terminal portion is required for tooth enamel calcificationHuman Mutation, 2008
- FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis ImperfectaAmerican Journal of Human Genetics, 2008
- The Hemopexin and O-Glycosylated Domains Tune Gelatinase B/MMP-9 Bioavailability via Inhibition and Binding to Cargo ReceptorsPublished by Elsevier BV ,2006
- ENDOPLASMIC RETICULUM–ASSOCIATED DEGRADATIONAnnual Review of Cell and Developmental Biology, 2005
- MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfectaJournal of Medical Genetics, 2005
- Enamelysin (Matrix Metalloproteinase 20)-deficient Mice Display an Amelogenesis Imperfecta PhenotypePublished by Elsevier BV ,2002
- The Hemopexin-like Domain (C Domain) of Human Gelatinase A (Matrix Metalloproteinase-2) Requires Ca2+ for Fibronectin and Heparin BindingPublished by Elsevier BV ,1997
- Crystal structure of the haemopexin-like C-terminal domain of gelatinase ANature Structural & Molecular Biology, 1995
- Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classificationJournal of Oral Pathology & Medicine, 1988