References
- Bitner-Glindzicz M. Hereditary deafness and phenotyping in humans. Br Med Bull 2002;63:73–94.
- Wang QJ, Zhao YL, Rao SQ, Guo YF, He Y, Lan L, et al. Newborn hearing concurrent gene screening can improve care for hearing loss: a study on 14,913 Chinese newborns. Int J Pediatr Otorhinolaryngol 2011;75:535–42.
- Smith RJH, Bale JF, White KR. Sensorineural hearing loss in children. Lancet 2005;365:879–90.
- Ouyang XM, Yan D, Yuan HJ, Pu D, Du LL, Han DY, et al. The genetic bases for non-syndromic hearing loss among Chinese. J Hum Genet 2009;54:131–40.
- Yuan Y, You Y, Huang D, Cui J, Wang Y, Wang Q, et al. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. J Transl Med 2009;7:79.
- Dai P, Li Q, Huang DL, Yuan YY, Kang DY, Miller DT, et al. SLC26A4 c.919-2A > G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med 2008;10:586–92.
- Yoon JS, Park HJ, Yoo SY, Namkung W, Jo MJ, Koo SK, et al. Heterogeneity in the processing defect of SLC26A4 mutants. J Med Genet 2008;45:411–19.
- Duman D, Tekin M. Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci 2012;17:2213–36.
- Propst EJ, Stockley TL, Gordon KA, Harrison RV, Papsin BC. Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program. Int J Pediatr Otorhinolaryngol 2006;70:435–44.
- Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J, et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005;77:945–57.
- Dai P, Yu F, Han B, Liu XZ, Wang GJ, Li Q, et al. GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment. J Transl Med 2009;7:26.
- Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, et al. Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet 2000;9:63–7.
- Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, et al. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998;18:215–17.
- Zhao H, Li RH, Wang QJ, Yan QF, Deng JH, Han DY, et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 2004;74:139–52.
- Huang SS, Han DY, Yuan YY, Wang GJ, Kang DY, Zhang X, et al. Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. J Transl Med 2011;9:167.
- Wang QJ, Zhao YL, Rao SQ, Guo YF, Yuan H, Zong L, et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet 2007;72:245–54.
- Park H-J, Shaukat S, Liu X-Z, Hahn SH, Naz S, Ghosh M, et al. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 2003;40:242–8.
- Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411–22.
- Bizhanova A, Chew TL, Khuon S, Kopp P. Analysis of cellular localization and function of carboxy-terminal mutants of pendrin. Cell Physiol Biochem 2011;28:423–34.
- Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC. Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in pendred syndrome. J Clin Endocrinol Metab 2002;87:1778–84.