Monogenic hearing loss
Gene: DSPP
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#125420:Dentin dysplasia, type II[Amber, translucent coloration (primary teeth)Obliteration of pulp chambers following eruption (primary teeth)Normal-shaped roots (primary teeth)Normal coloration (secondary teeth)Thistle-shaped pulp chambers (secondary teeth)Multiple pulp stones (secondary teeth)Normal-shaped roots (secondary teeth)]; #125490:Dentinogenesis imperfecta, Shields type II[Dentinogenesis imperfectaBrown-blue or opalescent brown teethBulbous shaped crownNarrow rootsRoot canals are small or obliteratedAbsent pulp chambersSevere attritionPrimary and secondary teeth affected]; #125500:Dentinogenesis imperfecta, Shields type III[Anterior openbite; Primary and secondary teeth affectedAmber-opalescent colored teeth (primary and secondary)Marked attrition (primary and secondary)Enamel pitting (secondary)Normal-to-enlarged pulp chamber (primary)Obliterated pulp chamber (secondary)Periapical radiolucenciesPulp exposuresIncisal notchingShell teethBulbous tooth crowns]; #605594:Deafness, autosomal dominant 39, with dentinogenesis[Progressive high-frequency hearing loss (onset 20-30 years)Tinnitus; Dentinogenesis imperfecta]
Publications
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:41 p.m.
Phenotypes for DSPP were set to hearing loss; Dentinogenesis imperfecta, Shields type II, 125490; Deafness, autosomal dominant 36, with dentinogenesis, 605594; Dentinogenesis imperfecta, Shields type III, 125500; Dentin dysplasia, type II, 125420; Dentin dysplasia, type II,1254203
Publications for DSPP were set to PMID:10706475; 11116156; 11175770; 11175779; 11175790; 12354781; 12721295; 14758537; 15592686; 15954904; 17210923; 18456718; 22392858; 22582013; 2433419; 2462619; 7573043; 8995371; 9533027
Mode of inheritance for DSPP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
DSPP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
DSPP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
DSPP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert