메뉴 건너뛰기




Volumn 7, Issue 5, 2012, Pages

The p.V37I exclusive genotype of GJB2: A genetic risk-indicator of postnatal permanent childhood hearing impairment

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; VALINE; CONNEXIN 26; GAP JUNCTION PROTEIN;

EID: 84860528156     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0036621     Document Type: Article
Times cited : (48)

References (22)
  • 1
    • 0031728855 scopus 로고    scopus 로고
    • Language of early- and later-identified children with hearing loss
    • Yoshinaga-Itano C, Sedey AL, Coulter DK, Mehl AL, (1998) Language of early- and later-identified children with hearing loss. Pediatrics 102: 1161-1171.
    • (1998) Pediatrics , vol.102 , pp. 1161-1171
    • Yoshinaga-Itano, C.1    Sedey, A.L.2    Coulter, D.K.3    Mehl, A.L.4
  • 2
    • 0034268555 scopus 로고    scopus 로고
    • Early intervention and language development in children who are deaf and hard of hearing
    • Moeller MP, (2000) Early intervention and language development in children who are deaf and hard of hearing. Pediatrics 106: E43.
    • (2000) Pediatrics , vol.106
    • Moeller, M.P.1
  • 3
    • 0032936357 scopus 로고    scopus 로고
    • The efficacy of early identification and intervention for children with hearing impairment
    • Downs MP, Yoshinaga-Itano C, (1999) The efficacy of early identification and intervention for children with hearing impairment. Pediatr Clin North Am 46: 79-87.
    • (1999) Pediatr Clin North Am , vol.46 , pp. 79-87
    • Downs, M.P.1    Yoshinaga-Itano, C.2
  • 4
    • 0035828440 scopus 로고    scopus 로고
    • Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study
    • Fortnum HM, Summerfield AQ, Marshall DH, Davis AC, Bamford JM, (2001) Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study. Bmj 323: 536-540.
    • (2001) Bmj , vol.323 , pp. 536-540
    • Fortnum, H.M.1    Summerfield, A.Q.2    Marshall, D.H.3    Davis, A.C.4    Bamford, J.M.5
  • 5
    • 33646377165 scopus 로고    scopus 로고
    • Universal newborn hearing screening and postnatal hearing loss
    • Weichbold V, Nekahm-Heis D, Welzl-Mueller K, (2006) Universal newborn hearing screening and postnatal hearing loss. Pediatrics 117: e631-636.
    • (2006) Pediatrics , vol.117
    • Weichbold, V.1    Nekahm-Heis, D.2    Welzl-Mueller, K.3
  • 6
    • 33646706079 scopus 로고    scopus 로고
    • Newborn hearing screening-a silent revolution
    • Morton CC, Nance WE, (2006) Newborn hearing screening-a silent revolution. N Engl J Med 354: 2151-2164.
    • (2006) N Engl J Med , vol.354 , pp. 2151-2164
    • Morton, C.C.1    Nance, W.E.2
  • 7
    • 0033775739 scopus 로고    scopus 로고
    • Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs
    • Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, American Speech-Language-Hearing Association, Directors of Speech and Hearing Programs in State Health and Welfare Agencies
    • Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, American Speech-Language-Hearing Association, Directors of Speech and Hearing Programs in State Health and Welfare Agencies (2000) Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Pediatrics 106: 798-817.
    • (2000) Pediatrics , vol.106 , pp. 798-817
  • 8
    • 79960132440 scopus 로고    scopus 로고
    • Screening for delayed-onset hearing loss in preschool children who previously passed the newborn hearing screening
    • Lu J, Huang Z, Yang T, Li Y, Mei L, et al. (2011) Screening for delayed-onset hearing loss in preschool children who previously passed the newborn hearing screening. Int J Pediatr Otorhinolaryngol 75: 1045-1049.
    • (2011) Int J Pediatr Otorhinolaryngol , vol.75 , pp. 1045-1049
    • Lu, J.1    Huang, Z.2    Yang, T.3    Li, Y.4    Mei, L.5
  • 9
    • 0033037643 scopus 로고    scopus 로고
    • Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
    • Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, et al. (1999) Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 103: 546-550.
    • (1999) Pediatrics , vol.103 , pp. 546-550
    • Cohn, E.S.1    Kelley, P.M.2    Fowler, T.W.3    Gorga, M.P.4    Lefkowitz, D.M.5
  • 10
    • 9844252338 scopus 로고    scopus 로고
    • Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene
    • Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, et al. (1997) Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 6: 2173-2177.
    • (1997) Hum Mol Genet , vol.6 , pp. 2173-2177
    • Denoyelle, F.1    Weil, D.2    Maw, M.A.3    Wilcox, S.A.4    Lench, N.J.5
  • 11
    • 0032492217 scopus 로고    scopus 로고
    • Connexin-26 mutations in sporadic and inherited sensorineural deafness
    • Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, et al. (1998) Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351: 394-398.
    • (1998) Lancet , vol.351 , pp. 394-398
    • Estivill, X.1    Fortina, P.2    Surrey, S.3    Rabionet, R.4    Melchionda, S.5
  • 12
    • 0034644421 scopus 로고    scopus 로고
    • Genetic testing to identify deaf newborns
    • Green GE, Smith RJ, Bent JP, Cohn ES, (2000) Genetic testing to identify deaf newborns. JAMA 284: 1245.
    • (2000) JAMA , vol.284 , pp. 1245
    • Green, G.E.1    Smith, R.J.2    Bent, J.P.3    Cohn, E.S.4
  • 13
    • 33750630301 scopus 로고    scopus 로고
    • Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness
    • Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, et al. (2006) Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear 27: 732-741.
    • (2006) Ear Hear , vol.27 , pp. 732-741
    • Norris, V.W.1    Arnos, K.S.2    Hanks, W.D.3    Xia, X.4    Nance, W.E.5
  • 14
    • 7244227967 scopus 로고    scopus 로고
    • High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals
    • Wattanasirichaigoon D, Limwongse C, Jariengprasert C, Yenchitsomanus PT, Tocharoenthanaphol C, et al. (2004) High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals. Clin Genet 66: 452-460.
    • (2004) Clin Genet , vol.66 , pp. 452-460
    • Wattanasirichaigoon, D.1    Limwongse, C.2    Jariengprasert, C.3    Yenchitsomanus, P.T.4    Tocharoenthanaphol, C.5
  • 16
    • 57349131522 scopus 로고    scopus 로고
    • Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population
    • Han SH, Park HJ, Kang EJ, Ryu JS, Lee A, et al. (2008) Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population. J Hum Genet 53: 1022-1028.
    • (2008) J Hum Genet , vol.53 , pp. 1022-1028
    • Han, S.H.1    Park, H.J.2    Kang, E.J.3    Ryu, J.S.4    Lee, A.5
  • 17
    • 77955558976 scopus 로고    scopus 로고
    • Connexin-26-associated deafness: phenotypic variability and progression of hearing loss
    • Chan DK, Schrijver I, Chang KW, (2010) Connexin-26-associated deafness: phenotypic variability and progression of hearing loss. Genet Med 12: 174-181.
    • (2010) Genet Med , vol.12 , pp. 174-181
    • Chan, D.K.1    Schrijver, I.2    Chang, K.W.3
  • 18
    • 35848958382 scopus 로고    scopus 로고
    • M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance
    • Pollak A, Skorka A, Mueller-Malesinska M, Kostrzewa G, Kisiel B, et al. (2007) M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. Am J Med Genet A 143A: 2534-2543.
    • (2007) Am J Med Genet A , vol.143 A , pp. 2534-2543
    • Pollak, A.1    Skorka, A.2    Mueller-Malesinska, M.3    Kostrzewa, G.4    Kisiel, B.5
  • 19
    • 77649317436 scopus 로고    scopus 로고
    • Development of an effective public health screening program to assess hearing disabilities among newborns in Shanghai: a prospective cohort study
    • Sun X, Shen X, Zakus D, Lv J, Xu Z, et al. (2009) Development of an effective public health screening program to assess hearing disabilities among newborns in Shanghai: a prospective cohort study. World Health Popul 11: 14-23.
    • (2009) World Health Popul , vol.11 , pp. 14-23
    • Sun, X.1    Shen, X.2    Zakus, D.3    Lv, J.4    Xu, Z.5
  • 20
    • 79960132440 scopus 로고    scopus 로고
    • Screening for delayed-onset hearing loss in preschool children who previously passed the newborn hearing screening
    • Lu J, Huang Z, Yang T, Li Y, Mei L, et al. (2011) Screening for delayed-onset hearing loss in preschool children who previously passed the newborn hearing screening. Int J Pediatr Otorhinolaryngol 75: 1045-1049.
    • (2011) Int J Pediatr Otorhinolaryngol , vol.75 , pp. 1045-1049
    • Lu, J.1    Huang, Z.2    Yang, T.3    Li, Y.4    Mei, L.5
  • 21
    • 0033575109 scopus 로고    scopus 로고
    • Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
    • Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, et al. (1999) Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 281: 2211-2216.
    • (1999) JAMA , vol.281 , pp. 2211-2216
    • Green, G.E.1    Scott, D.A.2    McDonald, J.M.3    Woodworth, G.G.4    Sheffield, V.C.5
  • 22
    • 20144386649 scopus 로고    scopus 로고
    • Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns
    • Oguchi T, Ohtsuka A, Hashimoto S, Oshima A, Abe S, et al. (2005) Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns. J Hum Genet 50: 76-83.
    • (2005) J Hum Genet , vol.50 , pp. 76-83
    • Oguchi, T.1    Ohtsuka, A.2    Hashimoto, S.3    Oshima, A.4    Abe, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.