메뉴 건너뛰기




Volumn 115, Issue 6, 2005, Pages 1060-1064

Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: A unique spectrum of mutations in Taiwan, including a frequent founder mutation

Author keywords

Enlarged vestibular aqueduct; Founder effect; IVS7 2A>G; Mondini dysplasia; PDS gene; Pendred syndrome; SLC26A4 gene; Taiwan

Indexed keywords

ADENINE; CYTOSINE; GUANINE; THYMINE;

EID: 84984550566     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.MLG.0000163339.61909.D0     Document Type: Article
Times cited : (73)

References (15)
  • 1
    • 0036139074 scopus 로고    scopus 로고
    • Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss
    • Mafong DD, Shin EJ, Lalwani AK. Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss. Laryngoscope 2002;112:1-7.
    • (2002) Laryngoscope , vol.112 , pp. 1-7
    • Mafong, D.D.1    Shin, E.J.2    Lalwani, A.K.3
  • 2
    • 84984586034 scopus 로고    scopus 로고
    • Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia
    • Wu CC, Chen YS, Chen PJ, Hsu CJ. Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia. Laryngoscope 2005;115:132-137.
    • (2005) Laryngoscope , vol.115 , pp. 132-137
    • Wu, C.C.1    Chen, Y.S.2    Chen, P.J.3    Hsu, C.J.4
  • 3
    • 0033015606 scopus 로고    scopus 로고
    • Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutation
    • Usami S, Abe S, Weston MD, et al. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutation. Hum Genet 1999;104:188-192.
    • (1999) Hum Genet , vol.104 , pp. 188-192
    • Usami, S.1    Abe, S.2    Weston, M.D.3
  • 4
    • 0032901865 scopus 로고    scopus 로고
    • The Pendred syndrome gene encodes a chloride-iodide transport protein
    • Scott DA, Wang R, Kreman TM, et al. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 1999;21:440-443.
    • (1999) Nat Genet , vol.21 , pp. 440-443
    • Scott, D.A.1    Wang, R.2    Kreman, T.M.3
  • 5
    • 16944366606 scopus 로고    scopus 로고
    • Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
    • Everett LA, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411-422.
    • (1997) Nat Genet , vol.17 , pp. 411-422
    • Everett, L.A.1    Glaser, B.2    Beck, J.C.3
  • 6
    • 0032011145 scopus 로고    scopus 로고
    • A mutation in PDS causes non-syndromic recessive deafness
    • Li XC, Everett LA, Lalwani AK, et al. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998;18:215-217.
    • (1998) Nat Genet , vol.18 , pp. 215-217
    • Li, X.C.1    Everett, L.A.2    Lalwani, A.K.3
  • 7
    • 0034235222 scopus 로고    scopus 로고
    • Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and nonsyndromic hearing loss (DFNB4)
    • Scott DA, Wang R, Kreman TM, et al. Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and nonsyndromic hearing loss (DFNB4). Hum Mol Genet 2000;9:1709-1715.
    • (2000) Hum Mol Genet , vol.9 , pp. 1709-1715
    • Scott, D.A.1    Wang, R.2    Kreman, T.M.3
  • 8
    • 0035034863 scopus 로고    scopus 로고
    • Pendred syndrome, DFNB4, and PDS/SLC26A4. Identification of eight novel mutations and possible genotype-phenotype correlations
    • Campbell C, Cucci RA, Prasad S, et al. Pendred syndrome, DFNB4, and PDS/SLC26A4. Identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 2001;17:403-411.
    • (2001) Hum Mutat , vol.17 , pp. 403-411
    • Campbell, C.1    Cucci, R.A.2    Prasad, S.3
  • 9
    • 4844223744 scopus 로고    scopus 로고
    • Screening of SLC26A4 (PDS) gene in Pendred's syndrome: A large spectrum of mutations in France and phenotypic heterogeneity
    • Blons H, Feldmann D, Duval V, et al. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet 2004;66:333-340.
    • (2004) Clin Genet , vol.66 , pp. 333-340
    • Blons, H.1    Feldmann, D.2    Duval, V.3
  • 10
    • 0346025681 scopus 로고    scopus 로고
    • 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
    • Tsukamoto K, Suzuki H, Harada D, et al. 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 2003;11:916-922.
    • (2003) Eur J Hum Genet , vol.11 , pp. 916-922
    • Tsukamoto, K.1    Suzuki, H.2    Harada, D.3
  • 11
    • 84984567473 scopus 로고    scopus 로고
    • Specificity of SLC26A4 gene mutations in the pathogenesis of inner ear malformations
    • In press
    • Wu CC, Chen PJ, Hsu CJ. Specificity of SLC26A4 gene mutations in the pathogenesis of inner ear malformations. Audiol Neurootol In press.
    • Audiol Neurootol
    • Wu, C.C.1    Chen, P.J.2    Hsu, C.J.3
  • 12
    • 0032994602 scopus 로고    scopus 로고
    • Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome
    • Coucke PJ, Van Hauwe P, Everett LA, et al. Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. J Med Genet 1999;36:475-477.
    • (1999) J Med Genet , vol.36 , pp. 475-477
    • Coucke, P.J.1    Van Hauwe, P.2    Everett, L.A.3
  • 13
    • 0037390447 scopus 로고    scopus 로고
    • Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness
    • Park HJ, Shaukat S, Liu XZ, 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;40:241-248.
    • (2003) J Med Genet , vol.40 , pp. 241-248
    • Park, H.J.1    Shaukat, S.2    Liu, X.Z.3
  • 14
    • 0041303428 scopus 로고    scopus 로고
    • Mutation spectrum of the connexin26 (GJB2) gene in Taiwanese patients with prelingual deafness
    • Hwa HL, Ko TM, Hsu CJ, et al. Mutation spectrum of the connexin26 (GJB2) gene in Taiwanese patients with prelingual deafness. Genet Med 2003;5:161-165.
    • (2003) Genet Med , vol.5 , pp. 161-165
    • Hwa, H.L.1    Ko, T.M.2    Hsu, C.J.3
  • 15
    • 0037959640 scopus 로고    scopus 로고
    • Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice
    • Hulander M, Kiernan AE, Blomqvist SR, et al. Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice. Development 2003;130:2013-2025.
    • (2003) Development , vol.130 , pp. 2013-2025
    • Hulander, M.1    Kiernan, A.E.2    Blomqvist, S.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.