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Volumn 134, Issue 3, 2008, Pages 294-300

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUDIOMETRY; AUTOSOMAL DOMINANT INHERITANCE; CHILD; FAMILY; GENE; GENE MUTATION; HEARING; HUMAN; MAJOR CLINICAL STUDY; PEDIGREE; PERCEPTION DEAFNESS; POU4F3 GENE; PRESBYACUSIS; PURE TONE AUDIOMETRY; SPEECH AUDIOMETRY; VESTIBULAR DISORDER; VESTIBULAR LABYRINTH HYPOFUNCTION; VESTIBULAR TEST;

EID: 41149115645     PISSN: 08864470     EISSN: 08864470     Source Type: Journal    
DOI: 10.1001/archotol.134.3.294     Document Type: Article
Times cited : (25)

References (30)
  • 2
    • 7144257859 scopus 로고    scopus 로고
    • Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
    • Vahava O, Morell R, Lynch ED, et al. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science. 1998; 279(5358):1950-1954.
    • (1998) Science , vol.279 , Issue.5358 , pp. 1950-1954
    • Vahava, O.1    Morell, R.2    Lynch, E.D.3
  • 4
    • 0031770385 scopus 로고    scopus 로고
    • Requirement for Brn-3c in maturation and survival, but not in fate determination of inner ear hair cells
    • Xiang M, Gao WQ, Hasson T, Shin JJ. Requirement for Brn-3c in maturation and survival, but not in fate determination of inner ear hair cells. Development. 1998;125(20):3935-3946.
    • (1998) Development , vol.125 , Issue.20 , pp. 3935-3946
    • Xiang, M.1    Gao, W.Q.2    Hasson, T.3    Shin, J.J.4
  • 5
    • 0038085356 scopus 로고    scopus 로고
    • Brn3c null mutant mice show longterm, incomplete retention of some afferent inner ear innervation
    • doi:10.1186/1471-2202-4-2
    • Xiang M, Maklad A, Pirvola U, Fritzsch B. Brn3c null mutant mice show longterm, incomplete retention of some afferent inner ear innervation. BMC Neurosci. 2003;4(1):2. doi:10.1186/1471-2202-4-2.
    • (2003) BMC Neurosci , vol.4 , Issue.1 , pp. 2
    • Xiang, M.1    Maklad, A.2    Pirvola, U.3    Fritzsch, B.4
  • 6
    • 0030802157 scopus 로고    scopus 로고
    • Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development
    • Xiang M, Gan L, Li D, et al. Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development. Proc Natl Acad Sci U S A. 1997;94 (17):9445-9450.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , Issue.17 , pp. 9445-9450
    • Xiang, M.1    Gan, L.2    Li, D.3
  • 7
    • 15844384249 scopus 로고    scopus 로고
    • Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development
    • Erkman L, McEvilly RJ, Luo L, et al. Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development. Nature. 1996;381(6583):603-606.
    • (1996) Nature , vol.381 , Issue.6583 , pp. 603-606
    • Erkman, L.1    McEvilly, R.J.2    Luo, L.3
  • 8
    • 42049087884 scopus 로고    scopus 로고
    • Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect tertiary structure, subcellular localization and DNA binding
    • In press
    • Collin RWJ, Chellappa R, Pauw RJ, et al. Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect tertiary structure, subcellular localization and DNA binding. Hum Mutat. In press.
    • Hum Mutat
    • Collin, R.W.J.1    Chellappa, R.2    Pauw, R.J.3
  • 10
    • 0347144301 scopus 로고    scopus 로고
    • Characterizing and distinguishing progressive phenotypes in nonsyndromic autosomal dominant hearing impairment
    • doi:10.1080/16513860310003049
    • Huygen PLM, Pennings RJE, Cremers CWRJ. Characterizing and distinguishing progressive phenotypes in nonsyndromic autosomal dominant hearing impairment. Audiol Med. 2003;1(1):37-46. doi:10.1080/16513860310003049.
    • (2003) Audiol Med , vol.1 , Issue.1 , pp. 37-46
    • Huygen, P.L.M.1    Pennings, R.J.E.2    Cremers, C.W.R.J.3
  • 11
    • 17944382920 scopus 로고    scopus 로고
    • Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH
    • Bom SJH, De Leenheer EMR, Lemaire FX, et al. Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH. Arch Otolaryngol Head Neck Surg. 2001;127(9):1045-1048.
    • (2001) Arch Otolaryngol Head Neck Surg , vol.127 , Issue.9 , pp. 1045-1048
    • Bom, S.J.H.1    De Leenheer, E.M.R.2    Lemaire, F.X.3
  • 13
    • 0034092944 scopus 로고    scopus 로고
    • The phenotype of DFNA13/COL11A2 : Nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment
    • Kunst HPM, Huybrechts C, Marres HAM, Huygen PLM, Van Camp G, Cremers CWRJ. The phenotype of DFNA13/COL11A2 : nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment. Am J Otol. 2000;21(2):181-187.
    • (2000) Am J Otol , vol.21 , Issue.2 , pp. 181-187
    • Kunst, H.P.M.1    Huybrechts, C.2    Marres, H.A.M.3    Huygen, P.L.M.4    Van Camp, G.5    Cremers, C.W.R.J.6
  • 14
    • 0036362864 scopus 로고    scopus 로고
    • Gottfried I, Huygen PLM, Avraham KB. The clinical presentation of DFNA15/POU4F3. In: Cremers CWRJ, Smith RJH, eds. Genetic Hearing Impairment: Its Clinical Presentations. Basel, Switzerland: S Karger AG; 2002:92-97. Arnold W, ed. Advances in Oto-Rhino-Laryngology; 61.
    • Gottfried I, Huygen PLM, Avraham KB. The clinical presentation of DFNA15/POU4F3. In: Cremers CWRJ, Smith RJH, eds. Genetic Hearing Impairment: Its Clinical Presentations. Basel, Switzerland: S Karger AG; 2002:92-97. Arnold W, ed. Advances in Oto-Rhino-Laryngology; vol 61.
  • 16
    • 33646826656 scopus 로고    scopus 로고
    • Cochleovestibular and ocular features in a Dutch DFNA11 family
    • Bischoff AMLC, Pennings RJ, Huygen PLM, et al. Cochleovestibular and ocular features in a Dutch DFNA11 family. Otol Neurotol. 2006;27(3):323-331.
    • (2006) Otol Neurotol , vol.27 , Issue.3 , pp. 323-331
    • Bischoff, A.M.L.C.1    Pennings, R.J.2    Huygen, P.L.M.3
  • 17
    • 0003192392 scopus 로고    scopus 로고
    • Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21)
    • Kunst HPM, Marres HAM, Huygen PLM, et al. Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21). Clin Otolaryngol Allied Sci. 2000;25(1):45-54.
    • (2000) Clin Otolaryngol Allied Sci , vol.25 , Issue.1 , pp. 45-54
    • Kunst, H.P.M.1    Marres, H.A.M.2    Huygen, P.L.M.3
  • 19
    • 1642533497 scopus 로고    scopus 로고
    • A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3
    • Snoeckx RL, Kremer H, Ensink RJH, et al. A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3. J Med Genet. 2004;41(1):11-13.
    • (2004) J Med Genet , vol.41 , Issue.1 , pp. 11-13
    • Snoeckx, R.L.1    Kremer, H.2    Ensink, R.J.H.3
  • 20
    • 10744221846 scopus 로고    scopus 로고
    • A novel mutation identified in the DFNA5 gene in a Dutch family: A clinical and genetic evaluation
    • Bischoff AMLC, Luijendijk MWJ, Huygen PLM, et al. A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. Audiol Neurootol. 2004;9(1):34-46.
    • (2004) Audiol Neurootol , vol.9 , Issue.1 , pp. 34-46
    • Bischoff, A.M.L.C.1    Luijendijk, M.W.J.2    Huygen, P.L.M.3
  • 21
    • 0036162703 scopus 로고    scopus 로고
    • Phenotype of DFNA11: A nonsyndromic hearing loss caused by a myosin VIIA mutation
    • Tamagawa Y, Ishikawa K, Ishikawa K, et al. Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation. Laryngoscope. 2002;112(2):292-297.
    • (2002) Laryngoscope , vol.112 , Issue.2 , pp. 292-297
    • Tamagawa, Y.1    Ishikawa, K.2    Ishikawa, K.3
  • 22
    • 22044436394 scopus 로고    scopus 로고
    • Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells
    • Van Laer L, Pfister M, Thys S, et al. Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells. Neurobiol Dis. 2005;19(3):386-399.
    • (2005) Neurobiol Dis , vol.19 , Issue.3 , pp. 386-399
    • Van Laer, L.1    Pfister, M.2    Thys, S.3
  • 23
    • 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(1-2):137-149.
    • (2000) Brain Res Mol Brain Res , vol.82 , Issue.1-2 , pp. 137-149
    • Beisel, K.W.1    Nelson, N.C.2    Delimont, D.C.3    Fritzsch, B.4
  • 24
    • 0033524936 scopus 로고    scopus 로고
    • KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
    • Kubisch C, Schroeder BC, Friedrich T, et al. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell. 1999;96(3):437-446.
    • (1999) Cell , vol.96 , Issue.3 , pp. 437-446
    • Kubisch, C.1    Schroeder, B.C.2    Friedrich, T.3
  • 25
    • 27144540987 scopus 로고    scopus 로고
    • Differential expression of KCNQ4 in 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 KCNQ4 in inner hair cells and sensory neurons is the basis of progressive high-frequency hearing loss. J Neurosci. 2005;25(40):9285-9293.
    • (2005) J Neurosci , vol.25 , Issue.40 , pp. 9285-9293
    • Beisel, K.W.1    Rocha-Sanchez, S.M.2    Morris, K.A.3
  • 26
    • 32544435803 scopus 로고    scopus 로고
    • + channels implicate sensory outer hair cells in human progressive deafness
    • + channels implicate sensory outer hair cells in human progressive deafness. EMBO J. 2006;25(3):642-652.
    • (2006) EMBO J , vol.25 , Issue.3 , pp. 642-652
    • Kharkovets, T.1    Dedek, K.2    Maier, H.3
  • 27
    • 0028787263 scopus 로고
    • Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B
    • Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proc Natl Acad Sci U S A. 1995;92(21):9815-9819.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , Issue.21 , pp. 9815-9819
    • Hasson, T.1    Heintzelman, M.B.2    Santos-Sacchi, J.3    Corey, D.P.4    Mooseker, M.S.5
  • 28
    • 24944452590 scopus 로고    scopus 로고
    • Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): An analysis in 74 mutation carriers
    • Bischoff AMLC, Huygen PLM, Kemperman MH, et al. Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers. Otol Neurotol. 2005;26(5):918-925.
    • (2005) Otol Neurotol , vol.26 , Issue.5 , pp. 918-925
    • Bischoff, A.M.L.C.1    Huygen, P.L.M.2    Kemperman, M.H.3
  • 29
    • 24944480248 scopus 로고    scopus 로고
    • Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation
    • Kemperman MH, De Leenheer EMR, Huygen PLM, et al. Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation. Otol Neurotol. 2005;26(5):926-933.
    • (2005) Otol Neurotol , vol.26 , Issue.5 , pp. 926-933
    • Kemperman, M.H.1    De Leenheer, E.M.R.2    Huygen, P.L.M.3


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