The dentin phosphoprotein repeat region and inherited defects of dentin.

Nonsyndromic dentin defects classified as type II dentin dysplasia and types II and III dentinogenesis imperfecta are caused by mutations in DSPP (dentin sialophosphoprotein). Most reported disease-causing DSPP mutations occur within the repetitive DPP (dentin phosphoprotein) coding sequence. We characterized the DPP sequences of five probands with inherited dentin defects using single molecule real-time (SMRT) DNA sequencing.

Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.

Dental enamel forms through the concerted activities of specialized extracellular matrix proteins, including amelogenin, enamelin, MMP20, and KLK4. Defects in the genes encoding these proteins cause non-syndromic inherited enamel malformations collectively designated as amelogenesis imperfecta (AI). These genes, however, account for only about a quarter of all AI cases.

Clinical manifestations of terminal osseous dysplasia and pigmentary defects in a young girl.

Terminal osseous dysplasia and pigmentary defects is a rare X-linked dominant disorder with prenatal male lethality. Affected females display multiple systemic abnormalities such as limb deformities and pigmented lesions of the face and scalp. Phenotypic expression of the syndrome varies among the affected individuals.

Caries experience in children with various genetic sensitivity levels to the bitter taste of 6-n-propylthiouracil (PROP): a pilot study.

Purpose: The objective of this pilot study was to determine the prevalence of coronal dental caries among children with different genetic sensitivity levels of taste, as determined by 6-n-propylthiouracil (PROP).

Methods: Coronal caries and restorations in permanent and primary dentition were evaluated in 150 healthy school-aged children aged 6 to 12 years. A filter paper containing 6-n-propylthiouracil was used to determine each subject's genetic ability to taste bitter and sweet substances.