A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II.

[dentin dysplasia]

Hereditary dentin defects are divided into dentinogenesis imperfecta and dentin dysplasia . We identified a family segregating severe dentinogenesis imperfecta . The kindred spanned four generations and showed an autosomal-dominant pattern of inheritance . The proband was a child presenting with a severely affected primary dentition , with wide -open pulp chambers and multiple pulp exposures , resembling a DGI type III (DGI -III ) pattern . We hypothesized that a mutation in the DSPP gene is responsible for this severe phenotype . Mutational analyses revealed a novel mutation (c .53 T >A , p .V 18 D ) near the intron-exon boundary in the third exon of the DSPP gene . We analyzed the effect of the mutation by means of an in vitro splicing assay , which revealed that the mutation did not affect pre-m RNA splicing . Further studies are needed for a better understanding of the nature of the disease and the development of an appropriate treatment strategy .

Diseases
Validation

Diseases presenting "severe dentinogenesis imperfecta" symptom

dentin dysplasia

dentinogenesis imperfecta

You can validate or delete this automatically detected symptom