Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1

A number sign (#) is used with this entry because this syndrome of dentinogenesis imperfecta and deafness is caused by mutations in the DSPP gene (125485) on chromosome 4q21.

Xiao et al. (2001) described 2 families who had the combination of bilateral progressive high-frequency sensorineural hearing loss, designated DFNA39 by them, associated with dentinogenesis imperfecta-1 (DGI1; 125490). They could demonstrate mutations in the dentin sialophosphoprotein gene (DSPP) in these cases as well as in cases in which the dentinogenesis imperfecta-1 was not associated with deafness. Furthermore, they were able to detect the expression of DSPP in the inner ear of mice.

The deafness in the DGI1/DFNA39 syndrome described by Xiao et al. (2001) had its start in the high frequency range at an age of 20 to 30 years. Several affected members of both families had symptoms of tinnitus, and one member of one family had balance problems.