메뉴 건너뛰기




Volumn 5, Issue , 2012, Pages 97-104

Genetics of hearing loss: Focus on DFNA2

Author keywords

Deafness nonsyndromic autosomal dominant 2; Genetic hearing loss; GJB3; KCNQ4; Nonsyndromic deafness

Indexed keywords

CONNEXIN 31; GAP JUNCTION PROTEIN; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNQ4;

EID: 84868126295     PISSN: 1178704X     EISSN: None     Source Type: Journal    
DOI: 10.2147/TACG.S35525     Document Type: Review
Times cited : (15)

References (36)
  • 1
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991;630:16-31.
    • (1991) Ann N Y Acad Sci , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 3
    • 17344373747 scopus 로고    scopus 로고
    • Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
    • Xia JH, Liu CY, Tang BS, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998;20:370-373.
    • (1998) Nat Genet , vol.20 , pp. 370-373
    • Xia, J.H.1    Liu, C.Y.2    Tang, B.S.3
  • 4
    • 0033524936 scopus 로고    scopus 로고
    • KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutations in dominant deafness
    • Kubisch C, Schroeder BC, Friedrich T, et al. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutations in dominant deafness. Cell. 1999;96:437-446.
    • (1999) Cell , vol.96 , pp. 437-446
    • Kubisch, C.1    Schroeder, B.C.2    Friedrich, T.3
  • 5
    • 0036531908 scopus 로고    scopus 로고
    • Further evidence for a third deafness gene within the DFNA2 locus
    • Goldstein JA, Lalwani AK. Further evidence for a third deafness gene within the DFNA2 locus. Am J Med Genet. 2002;108:304-309.
    • (2002) Am J Med Genet , vol.108 , pp. 304-309
    • Goldstein, J.A.1    Lalwani, A.K.2
  • 8
    • 0031962461 scopus 로고    scopus 로고
    • Nonsyndromic autosomal dominant progressive sensorineural hearing loss: Audiologic analysis of a pedigree linked to DFNA2
    • Kunst H, Marres H, Huygen P, et al. Nonsyndromic autosomal dominant progressive sensorineural hearing loss: audiologic analysis of a pedigree linked to DFNA2. Laryngoscope. 1998;108:74-80.
    • (1998) Laryngoscope , vol.108 , pp. 74-80
    • Kunst, H.1    Marres, H.2    Huygen, P.3
  • 9
    • 0030917967 scopus 로고    scopus 로고
    • Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2
    • Marres H, van Ewijk M, Huygen P, et al. Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2. Arch Otolaryngol Head Neck Surg. 1997;123:573-577.
    • (1997) Arch Otolaryngol Head Neck Surg , vol.123 , pp. 573-577
    • Marres, H.1    van Ewijk, M.2    Huygen, P.3
  • 10
    • 0028101878 scopus 로고
    • Linkage of autosomal dominant hearing loss to the short arm of chromosome 1in two families
    • Coucke PJ, Van Camp G, Djoyodiharjo B, et al. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1in two families. N Engl J Med. 1994;331:425-431.
    • (1994) N Engl J Med , vol.331 , pp. 425-431
    • Coucke, P.J.1    Van Camp, G.2    Djoyodiharjo, B.3
  • 11
    • 0032575085 scopus 로고    scopus 로고
    • Connexin 26gene linked to a dominant deafness
    • Denoyelle F, Lina-Granade G, Plauchu H, et al. Connexin 26gene linked to a dominant deafness. Nature. 1998;393:319-320.
    • (1998) Nature , vol.393 , pp. 319-320
    • Denoyelle, F.1    Lina-Granade, G.2    Plauchu, H.3
  • 12
    • 0031007349 scopus 로고    scopus 로고
    • Connexin 26mutations in hereditary nonsyndromic sensorineural deafness
    • Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26mutations in hereditary nonsyndromic sensorineural deafness. Nature. 1997;387:80-83.
    • (1997) Nature , vol.387 , pp. 80-83
    • Kelsell, D.P.1    Dunlop, J.2    Stevens, H.P.3
  • 13
    • 0032846415 scopus 로고    scopus 로고
    • Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
    • Grifa A, Wagner CA, D'Ambrosio L, et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet. 1999;23:16-18.
    • (1999) Nat Genet , vol.23 , pp. 16-18
    • Grifa, A.1    Wagner, C.A.2    D'Ambrosio, L.3
  • 15
    • 0034303612 scopus 로고    scopus 로고
    • Neuronal KCNQ potassium channels: Physiology and role in disease
    • Jentsch TJ. Neuronal KCNQ potassium channels: physiology and role in disease. Nat Rev Neurosci. 2000;1:21-30.
    • (2000) Nat Rev Neurosci , vol.1 , pp. 21-30
    • Jentsch, T.J.1
  • 16
    • 0031054075 scopus 로고    scopus 로고
    • A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
    • Neyroud N, Tesson F, Denjoy I, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet. 1997;15:186-189.
    • (1997) Nat Genet , vol.15 , pp. 186-189
    • Neyroud, N.1    Tesson, F.2    Denjoy, I.3
  • 17
    • 79951681986 scopus 로고    scopus 로고
    • Pathogenic effects of a novel mutation (c.664-681del) in KCNQ4 channels associated with auditory pathology
    • Baek JI, Park HJ, Park K, et al. Pathogenic effects of a novel mutation (c.664-681del) in KCNQ4 channels associated with auditory pathology. Biochim Biophys Acta. 2011;1812:536-543.
    • (2011) Biochim Biophys Acta , vol.1812 , pp. 536-543
    • Baek, J.I.1    Park, H.J.2    Park, K.3
  • 18
    • 0034640646 scopus 로고    scopus 로고
    • Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region
    • Van Hauwe P, Couke PJ, Ensink RJ, Huygen P, Cremers CW, Van Camp G. Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. Am J Med Genet. 2000;93:184-187.
    • (2000) Am J Med Genet , vol.93 , pp. 184-187
    • Van Hauwe, P.1    Couke, P.J.2    Ensink, R.J.3    Huygen, P.4    Cremers, C.W.5    Van Camp, G.6
  • 19
    • 0034636056 scopus 로고    scopus 로고
    • KCNQ, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway
    • Kharkovets T, Hardelin JP, Safieddine S, et al. KCNQ, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway. Proc Natl Acad Sci USA. 2000;97(8):4333-4338.
    • (2000) Proc Natl Acad Sci USA , vol.97 , Issue.8 , pp. 4333-4338
    • Kharkovets, T.1    Hardelin, J.P.2    Safieddine, S.3
  • 20
    • 0032810047 scopus 로고    scopus 로고
    • Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
    • Coucke PJ, Van Hauwe P, Kelley PM, et al. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet. 1999;8:1321-1328.
    • (1999) Hum Mol Genet , vol.8 , pp. 1321-1328
    • Coucke, P.J.1    Van Hauwe, P.2    Kelley, P.M.3
  • 21
    • 38949121742 scopus 로고    scopus 로고
    • A novel mutation KCNQ4 pore-region mutation (p. G296S) causes deafness by impairing cell-surface channel expression
    • Mencia A, Gonzalez-Nieto D, Modamio-Hoybjor S, et al. A novel mutation KCNQ4 pore-region mutation (p. G296S) causes deafness by impairing cell-surface channel expression. Hum Genet. 2008;123:41-53.
    • (2008) Hum Genet , vol.123 , pp. 41-53
    • Mencia, A.1    Gonzalez-Nieto, D.2    Modamio-Hoybjor, S.3
  • 22
    • 78751681805 scopus 로고    scopus 로고
    • Autosomal dominant progressive sensorineural hEaring loss due to a novel mutation in the KCNQ4gene
    • Arnett J, Emery SB, Kim TB, et al. Autosomal dominant progressive sensorineural hEaring loss due to a novel mutation in the KCNQ4gene. Arch Otolaryngol Head Neck Surg. 2011;137:54-59.
    • (2011) Arch Otolaryngol Head Neck Surg , vol.137 , pp. 54-59
    • Arnett, J.1    Emery, S.B.2    Kim, T.B.3
  • 23
    • 12344264009 scopus 로고    scopus 로고
    • Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S)
    • Topsakal V, Pennings RJ, te Brinke H, et al. Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S). Otol Neurotol. 2005;26:52-58.
    • (2005) Otol Neurotol , vol.26 , pp. 52-58
    • Topsakal, V.1    Pennings, R.J.2    te Brinke, H.3
  • 24
    • 0036304870 scopus 로고    scopus 로고
    • A mutational hot spot in the KCNQ4gene responsible for autosomal dominant hearing impairment
    • Van Camp G, Couke PJ, Akita J, et al. A mutational hot spot in the KCNQ4gene responsible for autosomal dominant hearing impairment. Hum Mutat. 2002;20:15-19.
    • (2002) Hum Mutat , vol.20 , pp. 15-19
    • Van Camp, G.1    Couke, P.J.2    Akita, J.3
  • 25
    • 0034937052 scopus 로고    scopus 로고
    • Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese
    • Akita, J, Abe S, Shinkawa H, Kimerling WJ, Usami S. Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese. J Hum Genet. 2001;46:355-361.
    • (2001) J Hum Genet , vol.46 , pp. 355-361
    • Akita, J.1    Abe, S.2    Shinkawa, H.3    Kimerling, W.J.4    Usami, S.5
  • 26
    • 0032478818 scopus 로고    scopus 로고
    • The structure of the potassium channel: Molecular basis of K+ conduction and selectivity
    • Doyle DA, Morais Cabral J, Pfuetzner RA, et al. The structure of the potassium channel: molecular basis of K+ conduction and selectivity. Science. 1998;280:69-77.
    • (1998) Science , vol.280 , pp. 69-77
    • Doyle, D.A.1    Morais Cabral, J.2    Pfuetzner, R.A.3
  • 27
    • 0032794410 scopus 로고    scopus 로고
    • Novel mutation in the KCNQ4gene in a large kindred with dominant progressive hearing loss
    • Talebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SD. Novel mutation in the KCNQ4gene in a large kindred with dominant progressive hearing loss. Hum Mutat. 1999;14:493-501.
    • (1999) Hum Mutat , vol.14 , pp. 493-501
    • Talebizadeh, Z.1    Kelley, P.M.2    Askew, J.W.3    Beisel, K.W.4    Smith, S.D.5
  • 28
    • 58149357419 scopus 로고    scopus 로고
    • Mutations in KCNQ4 channels associated with nonsyndromic progressive sensorineural hearing loss
    • Nie L. Mutations in KCNQ4 channels associated with nonsyndromic progressive sensorineural hearing loss. Curr Opin Otlolaryngol Head Neck Surg. 2008;16:441-444.
    • (2008) Curr Opin Otlolaryngol Head Neck Surg , vol.16 , pp. 441-444
    • Nie, L.1
  • 29
    • 33845715168 scopus 로고    scopus 로고
    • Identification of novel mutations in the KCNQ4gene of patients with nonsyndromic deafness from Taiwan
    • Su CC, Yang JJ, Shieh JC, Su MC, Li SY. Identification of novel mutations in the KCNQ4gene of patients with nonsyndromic deafness from Taiwan. Audiol Neurolotol. 2007;12:20-26.
    • (2007) Audiol Neurolotol , vol.12 , pp. 20-26
    • Su, C.C.1    Yang, J.J.2    Shieh, J.C.3    Su, M.C.4    Li, S.Y.5
  • 30
    • 33745005751 scopus 로고    scopus 로고
    • A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: Implication for the genotype-phenotype correlation
    • Kamada F, Kure S, Kudo T, et al. A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation. J Hum Genet. 2006;51:455-460.
    • (2006) J Hum Genet , vol.51 , pp. 455-460
    • Kamada, F.1    Kure, S.2    Kudo, T.3
  • 31
    • 57449102040 scopus 로고    scopus 로고
    • Audioprofile-directed screening identified novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus
    • Hildebrand MS, Tack D, McMordie SJ, et al. Audioprofile-directed screening identified novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. Genet Med. 2008;10:797-804.
    • (2008) Genet Med , vol.10 , pp. 797-804
    • Hildebrand, M.S.1    Tack, D.2    McMordie, S.J.3
  • 32
    • 32544435803 scopus 로고    scopus 로고
    • Mice with altered KCNQ4K+ channels implicate sensory outer hair cells in human progressive deafness
    • Kharkovets T, Dedek K, Maier H, et al. Mice with altered KCNQ4K+ channels implicate sensory outer hair cells in human progressive deafness. EMBO J. 2006;25:642-652.
    • (2006) EMBO J , vol.25 , pp. 642-652
    • Kharkovets, T.1    Dedek, K.2    Maier, H.3
  • 33
    • 0034693298 scopus 로고    scopus 로고
    • Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2
    • Beisel KW, Nelson NC, Delimont DC, Fritzsch B. Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2. Brain Res Mol Brain Res. 2000;82:137-149.
    • (2000) Brain Res Mol Brain Res , vol.82 , pp. 137-149
    • Beisel, K.W.1    Nelson, N.C.2    Delimont, D.C.3    Fritzsch, B.4
  • 34
    • 27144540987 scopus 로고    scopus 로고
    • Differential expression of KCNQ4in inner hair cells and sensory neurons is the basis of progressive high-frequency hearing loss
    • Beisel KW, Rocha-Sanchez SM, Morris KA, et al. Differential expression of KCNQ4in inner hair cells and sensory neurons is the basis of progressive high-frequency hearing loss. J Neurosci. 2005;25: 9285-9293.
    • (2005) J Neurosci , vol.25 , pp. 9285-9293
    • Beisel, K.W.1    Rocha-Sanchez, S.M.2    Morris, K.A.3
  • 35
    • 0028988233 scopus 로고
    • Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
    • De Kok YJJ, van der Maaerl SM, Bitner-Glindzicz M, et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science. 1995;267:685-688.
    • (1995) Science , vol.267 , pp. 685-688
    • De Kok, Y.J.J.1    van der Maaerl, S.M.2    Bitner-Glindzicz, M.3
  • 36
    • 7144257859 scopus 로고    scopus 로고
    • Mutations in transcription factor POUF43 associated with inherited progressive hearing loss in humans
    • Vahava O, Morell R, Lynch ED, et al. Mutations in transcription factor POUF43 associated with inherited progressive hearing loss in humans. Science. 1998;279:1950-1954.
    • (1998) Science , vol.279 , pp. 1950-1954
    • Vahava, O.1    Morell, R.2    Lynch, E.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.