Suzanne de Bruijn

257 Exploring the missing heritability in subjects with hearing loss and EVA REFERENCES 1. Everett, L.A., Glaser, B., Beck, J.C., Idol, J.R., Buchs, A., Heyman, M. et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nature Genetics 17 , 411- 422 (1997). 2. Everett, L.A., Morsli, H.,Wu, D.K. & Green, E.D. Expression pattern of themouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proceedings of the National Academy of Sciences 96 , 9727-9732 (1999). 3. Royaux, I.E., Suzuki, K., Mori, A., Katoh, R., Everett, L.A., Kohn, L.D. et al. Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells. Endocrinology 141 , 839-845 (2000). 4. Royaux, I.E., Wall, S.M., Karniski, L.P., Everett, L.A., Suzuki, K., Knepper, M.A. et al. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proceedings of the National Academy of Sciences 98 , 4221-4226 (2001). 5. Pedemonte, N., Caci, E., Sondo, E., Caputo, A., Rhoden, K., Pfeffer, U. et al. Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channels. Journal of Immunology 178 , 5144-5153 (2007). 6. Wangemann, P., Nakaya, K., Wu, T., Maganti, R.J., Itza, E.M., Sanneman, J.D. et al. Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. American Journal of Physiology - Renal Physiology 292 , f1345-f1353 (2007). 7. Wangemann, P. The role of pendrin in the development of the murine inner ear. Cellular Physiology and Biochemistry 28 , 527-534 (2011). 8. Dou, H., Xu, J., Wang, Z., Smith, A.N., Soleimani, M., Karet, F.E. et al. Co-expression of pendrin, vacuolar H+-ATPase alpha4-subunit and carbonic anhydrase II in epithelial cells of the murine endolymphatic sac. Journal of Histochemistry & Cytochemistry 52 , 1377-1384 (2004). 9. Royaux, I.E., Belyantseva, I.A., Wu, T., Kachar, B., Everett, L.A., Marcus, D.C. et al. Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome. Journal of the Association for Research in Otolaryngology 4 , 394-404 (2003). 10. Sloan-Heggen, C.M., Bierer, A.O., Shearer, A.E., Kolbe, D.L., Nishimura, C.J., Frees, K.L. et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Human Genetics 135 , 441-450 (2016). 11. Lee, H.J., Jung, J., Shin, J.W., Song, M.H., Kim, S.H., Lee, J.H. et al. Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. Clinical Chemistry 86 , 270-275 (2014). 12. Suzuki, H., Oshima, A., Tsukamoto, K., Abe, S., Kumakawa, K., Nagai, K. et al. Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. Acta Oto-Laryngologica 127 , 1292-1297 (2007).