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Nat Genet. 2001 Feb;27(2):129-30.

Soundbites.

Author information

1
Department of Neurology, Baylor College of Medicine, Houston, Texas, USA. pragna@bcm.tmc.edu

Abstract

Dentinogenesis imperfecta (DGI) is characterized by discolored teeth with an opalescent sheen and dentin that fails to support enamel, causing it to easily chip. Two new studies show that DGI is associated with mutations in DSPP, a gene encoding dentin sialophosphoprotein that is processed into two proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). These are key components of the dentin extracellular matrix (DECM). Notably, missense mutations in DSPP are also associated with progressive hearing loss.

PMID:
11175770
DOI:
10.1038/84728
[Indexed for MEDLINE]

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