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Original Article

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss

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Pages 782-785 | Received 05 Jan 2016, Accepted 17 Feb 2016, Published online: 04 Apr 2016

References

  • Xia H, Huang X, Guo Y, Hu P, He G, Deng X, et al. Identification of a novel MYO15A mutation in a Chinese family with autosomal recessive nonsyndromic hearing loss. PLoS One 2015;10:e0136306.
  • Hilgert N, Smith RJ, Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009;681:189–96.
  • Hoefsloot LH, Feenstra I, Kunst HP, Kremer H. Genotype phenotype correlations for hearing impairment: approaches to management. Clin Genet 2014;85:514–23.
  • Diaz-Horta O, Duman D, Foster JN, Sirmaci A, Gonzalez M, Mahdieh N, et al. Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One 2012;7:e50628.
  • Bae SH, Baek JI, Lee JD, Song MH, Kwon TJ, Oh SK, et al. Genetic analysis of auditory neuropathy spectrum disorder in the Korean population. Gene 2013;522:65–9.
  • Yuan L, Wu S, Xu H, Xiao J, Yang Z, Xia H, et al. Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing. Biol Chem 2015;396:27–33.
  • Guo Y, Yuan J, Liang H, Xiao J, Xu H, Yuan L, et al. Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. Mol Biol Rep 2014;41:3631–5.
  • Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, et al. Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet 2002;71:632–6.
  • Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80–3.
  • Morle L, Bozon M, Alloisio N, Latour P, Vandenberghe A, Plauchu H, et al. A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. J Med Genet 2000;37:368–70.
  • Maeda S, Nakagawa S, Suga M, Yamashita E, Oshima A, Fujiyoshi Y, et al. Structure of the connexin 26 gap junction channel at 3.5 A resolution. Nature 2009;458:597–602.
  • Cohen-Salmon M, Ott T, Michel V, Hardelin JP, Perfettini I, Eybalin M, et al. Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol 2002;12:1106–11.
  • Mese G, Londin E, Mui R, Brink PR, White TW. Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss. Hum Genet 2004;115:191–9.
  • Prasad S, Cucci RA, Green GE, Smith RJ. Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Hum Mutat 2000;16:502–8.
  • Zheng J, Ying Z, Cai Z, Sun D, He Z, Gao Y, et al. GJB2 mutation spectrum and genotype-phenotype correlation in 1067 Han Chinese subjects with non-syndromic hearing loss. PLoS One 2015;10:e0128691.
  • Yuan L, Guo Y, Yi J, Xiao J, Yuan J, Xiong W, et al. Identification of a novel GJA3 mutation in congenital nuclear cataract. Optom Vis Sci 2015;92:337–42.

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