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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2014

Open Access 01-12-2014 | Research article

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay

Authors: Megan L Weber, Hong-Yuan Hsin, Ersan Kalay, Dana Š Brožková, Takehiko Shimizu, Merve Bayram, Kathleen Deeley, Erika C Küchler, Jessalyn Forella, Timothy D Ruff, Vanessa M Trombetta, Regina C Sencak, Michael Hummel, Jessica Briseño-Ruiz, Shankar K Revu, José M Granjeiro, Leonardo S Antunes, Livia A Antunes, Fernanda V Abreu, Marcelo C Costa, Patricia N Tannure, Mine Koruyucu, Asli Patir, Fernando A Poletta, Juan C Mereb, Eduardo E Castilla, Iêda M Orioli, Mary L Marazita, Hongjiao Ouyang, Thottala Jayaraman, Figen Seymen, Alexandre R Vieira

Published in: BMC Medical Genetics | Issue 1/2014

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Abstract

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.
Appendix
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Metadata
Title
Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay
Authors
Megan L Weber
Hong-Yuan Hsin
Ersan Kalay
Dana Š Brožková
Takehiko Shimizu
Merve Bayram
Kathleen Deeley
Erika C Küchler
Jessalyn Forella
Timothy D Ruff
Vanessa M Trombetta
Regina C Sencak
Michael Hummel
Jessica Briseño-Ruiz
Shankar K Revu
José M Granjeiro
Leonardo S Antunes
Livia A Antunes
Fernanda V Abreu
Marcelo C Costa
Patricia N Tannure
Mine Koruyucu
Asli Patir
Fernando A Poletta
Juan C Mereb
Eduardo E Castilla
Iêda M Orioli
Mary L Marazita
Hongjiao Ouyang
Thottala Jayaraman
Figen Seymen
Alexandre R Vieira
Publication date
01-12-2014
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2014
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-15-81

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