A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.

[dentin dysplasia]

The dentin sialophosphoprotein (DSPP ) gene (4 q 21 .3 ) encodes two major noncollagenous dentin matrix proteins : dentin sialoprotein (DSP ) and dentin phosphoprotein (DPP ). Defects in the human gene encoding DSPP cause inherited dentin defects , and these defects can be associated with bilateral progressive high -frequency sensorineural hearing loss . Clinically , five different patterns of inherited dentin defects are distinguished and are classified as dentinogenesis imperfecta (DGI ) types I , II , and III , and dentin dysplasia types I and II . The genetic basis for this clinical heterogeneity is unknown . Among the 11 members recruited from the studied kindred , five were affected with autosomal dominant DGI type II . The mutation (g .1188 C-->G , IVS 2 -3 C-->G ) lay in the third from the last nucleotide of intron 2 and changed its sequence from CAG to GAG . The mutation was correlated with the affection status and was absent in 104 unaffected individuals (208 alleles ) with the same ethnic and geological background . The proband was in the primary dentition stage and presented with multiple pulp exposures . The occlusal surface of his dental enamel was generally abraded , and the dentin was heavily worn and uniformly shaded brown . The dental pulp chambers appeared originally to be within normal limits without any sign of obliteration , but over time (by age 4 ), the pulp chambers became partially or completely obliterated . The oldest affected member (age 59 ) showed mild hearing loss at high -frequency (8 kHz ). Permanent dentition was severely affected in the adults , who had advanced dental attrition , premature loss of teeth , and extensive dental reconstruction .

Diseases
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Diseases presenting "advanced dental attrition, premature loss of teeth" symptom

dentin dysplasia

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