BACKGROUND: Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans. METHODS: We tested for association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel development of mice. RESULTS: Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. Expression levels of ESRRB in whole saliva samples showed differences depending on sex and dental caries experience. CONCLUSIONS: The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the associated ESRRB genetic variants are correlated with efficacy.

• MeSH
• Tooth Demineralization * genetics   MeSH
• Child MeSH
• Adult MeSH
• Genetic Association Studies MeSH
• Polymorphism, Single Nucleotide MeSH
• Humans MeSH
• Chromosomes, Human, Pair 14 MeSH
• Adolescent MeSH
• Young Adult MeSH
• Mice MeSH
• Cell Line, Tumor MeSH
• Hearing Loss, Sensorineural genetics   pathology   MeSH
• Child, Preschool MeSH
• Receptors, Estrogen physiology   genetics   MeSH
• Pedigree MeSH
• Linkage Disequilibrium MeSH
• Dental Caries * genetics   MeSH
• Dental Enamel growth & development   MeSH
• Animals MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Mice MeSH
• Child, Preschool MeSH
• Female MeSH
• Animals MeSH