The invention has disclosed a method for diagnosis of dentinogenesis imperfecta type II (DGI-II) and/or dentinogenesis imperfecta type II with deafness (DGI-II with deafness). Said method comprises the steps of detecting the DSPP gene, transcript and/or protein in said subject and comparing it with the normal DSPP gene, transcript and/or protein to determine whether there is any variation, wherein said variation indicates that the possibility of suffering DGI-II and/or DGI-II with deafness in said subject is higher than the normal population. The present invention also discloses the method and pharmaceutical composition for treating DGI-II and/or DGI-II with deafness.
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