Hereditary dentine diseases resulting from mutations in DSPP gene.

[dentinogenesis imperfecta]

This review groups the newest results of molecular analyses of DSPP gene for patients diagnosed either with dentinogenesis imperfecta type II /III or dentine dysplasia and tries to link the phenotypes with specific mutations in the DSPP gene .T he review includes biochemical data introducing a specificity of DSPP protein which justifies it as a critical factor for dentine mineralization and maturation . The majority of the review analyzes mutations in the DSPP gene which result in phenotypes of dentinogenesis imperfecta types II or /and III or dentine dysplasia .An electronic search was conducted in the databases of Pub Med and supplemented by manual study of relevant references .52 out of 108 references were finally selected for the review based on the novelty and /or originality of data .Hereditary dentine disorders dentinogenesis imperfecta type II /III and dentine dysplasia are currently proposed to be one disease with distinct clinical manifestations reflecting various mutations in the same DSPP gene . For years both disorders were linked exclusively to mutations in the DSP code but a growing number of papers describe mutations which manifest a similar phenotype but are localized in the strongly repetitive sequence of the 3 ' terminus of the DSPP which codes DPP protein . Our search suggests that the localization of mutation in the sequence of the DSPP gene might result in a different phenotype due to the diverse cellular fate of the mutated protein . Thus comprehensive research on the cellular fate and processing of both normal and mutated DSPP is still required .

Diseases
Validation

Diseases presenting "maturation" symptom

congenital diaphragmatic hernia

dentin dysplasia

dentinogenesis imperfecta

omenn syndrome

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