References
- Azaiez H., Yang T., Prasad S., Sorensen J.L., Nishimura C.J. . 2007.Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet, 122, 451–457.
- Blons H., Feldmann D., Duval V., Messaz O., Denoyelle F. . 2004. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: A large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet, 66, 333–340.
- Coucke P.J., Van Hauwe P., Everett L.A., Demirhan O., Kabakkaya Y. . 1999. Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. J Med Genet, 36, 475–477.
- Dai P., Li Q., Huang D., Yuan Y., Kang D. . 2008. SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med, 10, 586–592.
- Dossena S., Nofziger C., Tamma G., Bernardinelli E., Vanoni S. . 2011. Molecular and functional characterization of human pendrin and its allelic variants. Cell Physiol Biochem, 28, 451–466.
- Everett L.A., Belyantseva I.A., Noben-Trauth K., Cantos R., Chen A. . 2001. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet, 10, 153–161.
- Everett L.A., Glaser B., Beck J.C., Idol J.R., Buchs A. . 1997. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet, 17, 411–422.
- Fugazzola L., Mannavola D., Cerutti N., Maghnie M., Pagella F. . 2000. Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome. J Clin Endocrinol Metab, 85, 2469–2475.
- Gillam M.P., Sidhaye A.R., Lee E.J., Rutishauser J., Stephan C.W. . 2004. Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux. J Biol Chem, 279, 13004–13010.
- Gonzalez Trevino O., Karamanoglu Arseven O., Ceballos C.J., Vives V.I., Ramirez R.C. . 2001. Clinical and molecular analysis of three Mexican families with Pendred's syndrome. Eur J Endocrinol, 144, 585–593.
- Homøe P., Koch A., Rendtorff N.D., Lodahl M., Andersen T. . 2012. GJB2 (Connexin-26) mutations are not frequent among hearing-impaired patients in east Greenland. Int J Audiol, 51, 433–436.
- Khalifa Alkowari M., Girotto G., Abdulhadi K., Dipresa S., Siam R. . 2012. GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population. Int J Audiol, 51, 181–185.
- Kopp P., Pesce L.& Solis-S J.C. 2008. Pendred syndrome and iodide transport in the thyroid. Trends Endocrinol Metab, 19, 260–268.
- Li X.C., Everett L.A., Lalwani A.K., Desmukh D., Friedman T.B. . 1998. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet, 18, 215–217.
- Luxon L.M., Cohen M., Coffey R.A., Phelps P.D., Britton K.E. . 2003. Neuro-otological findings in Pendred syndrome. Int J Audiol, 42, 82–88.
- Park H.J., Shaukat S., Liu X.Z., Hahn S.H., Naz S. . 2003. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness. J Med Genet, 40, 242–248.
- Pera A., Dossena S., Rodighiero S., Gandía M., Bottà G. . 2008a. Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. Proc Natl Acad Sci USA, 105, 18608–18613.
- Pera A., Villamar M., Viñuela A., Gandía M., Medà C. . 2008b. A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. Eur J Hum Genet, 16, 888–896.
- Phelps P.D., Coffey R.A., Trembath R.C., Luxon L.M., Grossman A.B. . 1998. Radiological malformations of the ear in Pendred syndrome. Clin Radiol, 53, 268–273.
- Reardon W., Coffey R., Chowdhury T., Grossman A., Jan H. . 1999. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet, 36, 595–598.
- Reardon W., Coffey R., Phelps P.D., Luxon L.M., Stephens D. . 1997. Pendred syndrome: 100 years of under-ascertainment?QJM, 90, 443–447.
- Royaux I.E., Belyantseva I.A., Wu T., Kachar B., Everett L.A. . 2003. Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in Pendred syndrome. J Assoc Res Otolaryngol, 4, 394–404.
- Snabboon T., Plengpanich W., Saengpanich S., Sirisalipoch S., Keelawat S. . 2007. Two common and three novel PDS mutations in Thai patients with Pendred syndrome. J Endocrinol Invest, 30, 907–913.
- Suzuki H., Oshima A., Tsukamoto K., Abe S., Kumakawa K. . 2007. Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. Acta Otolaryngol, 127, 1292–1297.
- Tsukamoto K., Suzuki H., Harada D., Namba A., Abe S. . 2003. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: A unique spectrum of mutations in Japanese. Eur J Hum Genet, 11, 916–922.
- Valvassori G.E.& Clemis J.D. 1978. The large vestibular aqueduct syndrome. Laryngoscope, 88, 723–728.
- Wangemann P., Nakaya K., Wu T., Maganti R.J., Itza E.M. . 2007. Loss of cochlear HCO3−secretion causes deafness via endolymphatic acidification and inhibition of Ca2+reabsorption in a Pendred syndrome mouse model. Am J Physiol Renal Physiol, 292, F1345–1353.
- Wilcox S.A., Saunders K., Osborn A.H., Arnold A., Wunderlich J. . 2000. High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet, 106, 399–405.
- Xing G., Chen Z., Wei Q., Tian H., Li X. . 2006. Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. Biochem Biophys Res Commun, 346, 1131–1135.
- Yang J.J., Tsai C.C., Hsu H.M., Shiao J.Y., Su C.C. . 2005. Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Hear Res, 199, 22–30.