deafness—autosomal dominant 39 with dentinogenesis imperfecta 1
AUDIOLOGY, CELL BIOLOGY, ENT
Definition An autosomal dominant disorder (OMIM:605594) characterised by progressive sensorineural high-frequency hearing loss and dentinogenesis imperfecta.
Molecular pathology Defects of DSPP, which encodes a protein of the dentin extracellular matrix that is secreted by odontoblasts and may play a role in dentin biomineralisation, cause deafness—autosomal dominant 39 with dentinogenesis imperfecta 1.
Synonyms DFNA39/dentinogenesis imperfecta 1 syndrome, DFNA39/DGI1 syndrome, DGI1/DFNA39 syndrome