| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| DSPP | DFNA39 -Dentinogenesis Imperfecta 1 | P17T | 49C>A | exon 2 | Chinese (1) | Xiao 2001 |
| V18F | 52G>T | exon 3 | Chinese (1) | Xiao 2001 | ||
| Q45X | 3658C>T | exon 3 | Chinese (1) | Zhang 2001 | ||
| IVS3+1G>A* | Chinese (1) | Xiao 2001 | ||||
| *No deafness associated with this mutation |