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Volumn 79, Issue 4, 2015, Pages 584-590

Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan

Author keywords

Congenital hearing loss; Genetic testing; Newborn hearing screening

Indexed keywords

ARTICLE; AUDITORY SCREENING; BILATERAL HEARING LOSS; CONGENITAL DEAFNESS; CONTROLLED STUDY; DISTORTION PRODUCT OTOACOUSTIC EMISSION; EVOKED BRAIN STEM AUDITORY RESPONSE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GJA1 GENE; GJA1P1 GENE; GJB1 GENE; GJB2 GENE; GJB3 GENE; GJB4 GENE; GJB6 GENE; GJC3 GENE; HETEROZYGOSITY; HIGH RESOLUTION COMPUTER TOMOGRAPHY; HOMOZYGOSITY; HUMAN; INFANT; INNER EAR MALFORMATION; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; OTORHINOLARYNGOLOGY DIAGNOSTIC DEVICE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SLC26A4 GENE; TAIWAN; UNILATERAL HEARING LOSS; VESTIBULE AQUEDUCT; ASIAN CONTINENTAL ANCESTRY GROUP; COHORT ANALYSIS; GENETIC SCREENING; GENETICS; GENOTYPE; GOVERNMENT; HEARING LOSS; HEARING TEST; MUTATION;

EID: 84924035294     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2015.01.033     Document Type: Article
Times cited : (16)

References (47)
  • 1
    • 59349118706 scopus 로고    scopus 로고
    • Forty-six genes causing nonsyndromic hearing impairment: which ones should be analysed in DNA diagnostics?
    • Hilgert N., Smith R.J., Van C.G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analysed in DNA diagnostics?. Mutat. Res. 2009, 681:189-196.
    • (2009) Mutat. Res. , vol.681 , pp. 189-196
    • Hilgert, N.1    Smith, R.J.2    Van, C.G.3
  • 3
    • 48949098523 scopus 로고    scopus 로고
    • Etiologic and audiologic evaluations after universal neonatal hearing screening: analysis of 170 referred neonates
    • Declau F., Boudewyns A.N., van den Ende J., Peeters A., Van de Heyning P.H. Etiologic and audiologic evaluations after universal neonatal hearing screening: analysis of 170 referred neonates. Pediatrics 2008, 121:1119-1126.
    • (2008) Pediatrics , vol.121 , pp. 1119-1126
    • Declau, F.1    Boudewyns, A.N.2    van den Ende, J.3    Peeters, A.4    Van de Heyning, P.H.5
  • 4
    • 33646706079 scopus 로고    scopus 로고
    • Newborn hearing screening-a silent revolution
    • Morton C.C., Nance W.E. Newborn hearing screening-a silent revolution. N. Engl. J. Med. 2006, 354:2151-2164.
    • (2006) N. Engl. J. Med. , vol.354 , pp. 2151-2164
    • Morton, C.C.1    Nance, W.E.2
  • 6
    • 84924039938 scopus 로고    scopus 로고
    • (accessed 25.09.14).
    • The Connexin-deafness homepage, (accessed 25.09.14). http://davinci.crg.es/deafness/index.php.
  • 7
    • 84892902885 scopus 로고    scopus 로고
    • GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype
    • Dylan K.C., Kay W.C. GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype. Laryngoscope 2014, 124:E34-E53.
    • (2014) Laryngoscope , vol.124 , pp. E34-E53
    • Dylan, K.C.1    Kay, W.C.2
  • 8
    • 0035991948 scopus 로고    scopus 로고
    • Gap junctions: structure and function (review)
    • Evans W.H., Martin P.E. Gap junctions: structure and function (review). Mol. Membr. Biol. 2002, 19:121-136.
    • (2002) Mol. Membr. Biol. , vol.19 , pp. 121-136
    • Evans, W.H.1    Martin, P.E.2
  • 9
    • 16944366606 scopus 로고    scopus 로고
    • Pendred syndrome is caused by mutation in a putative sulphate transporter gene (PDS)
    • Everett L.A., Glaser B., Beck J.C., Idol J.R., Buchs A., Heyman M., et al. Pendred syndrome is caused by mutation 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    Idol, J.R.4    Buchs, A.5    Heyman, M.6
  • 11
    • 0035034863 scopus 로고    scopus 로고
    • Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations
    • Campbell C., Cucci R.A., Prasad S., Green G.E., Edeal J.B., Galer C.E., 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    Green, G.E.4    Edeal, J.B.5    Galer, C.E.6
  • 13
    • 0041303428 scopus 로고    scopus 로고
    • Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness
    • Hwa H.L., Ko T.M., Hsu C.J., Huang C.H., Chiang Y.L., Oong J.L., et al. Mutation spectrum of the connexin 26 (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    Huang, C.H.4    Chiang, Y.L.5    Oong, J.L.6
  • 14
    • 34147189019 scopus 로고    scopus 로고
    • Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan
    • Yang J.J., Huang S.H., Chou K.H., Liao P.J., Su C.C., Li S.Y. Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. Audiol. Neurotol. 2007, 12(3):198-208.
    • (2007) Audiol. Neurotol. , vol.12 , Issue.3 , pp. 198-208
    • Yang, J.J.1    Huang, S.H.2    Chou, K.H.3    Liao, P.J.4    Su, C.C.5    Li, S.Y.6
  • 15
    • 77956055571 scopus 로고    scopus 로고
    • Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation
    • Yang J.J., Wang W.H., Lin Y.C., Weng H.H., Yang J.T., Hwang C.F., et al. Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation. Hum. Genet. 2010, 128:303-313.
    • (2010) Hum. Genet. , vol.128 , pp. 303-313
    • Yang, J.J.1    Wang, W.H.2    Lin, Y.C.3    Weng, H.H.4    Yang, J.T.5    Hwang, C.F.6
  • 16
    • 79960469358 scopus 로고    scopus 로고
    • Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center
    • Wu C.C., Hung C.C., Lin S.Y., Hsieh W.S., Tsao P.N., Lee C.N., et al. Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center. PLoS ONE 2011, 6(7):1-9.
    • (2011) PLoS ONE , vol.6 , Issue.7 , pp. 1-9
    • Wu, C.C.1    Hung, C.C.2    Lin, S.Y.3    Hsieh, W.S.4    Tsao, P.N.5    Lee, C.N.6
  • 17
    • 84879293952 scopus 로고    scopus 로고
    • Results of a 1-year government-funded newborn hearing screening program in Taiwan
    • Hsu H.C., Lee F.P., Huang H.M. Results of a 1-year government-funded newborn hearing screening program in Taiwan. Laryngoscope 2013, 123:1275-1278.
    • (2013) Laryngoscope , vol.123 , pp. 1275-1278
    • Hsu, H.C.1    Lee, F.P.2    Huang, H.M.3
  • 18
    • 0031978181 scopus 로고    scopus 로고
    • Base-calling of automated sequencer traces using phred. II. Error probabilities
    • Brent E., Phil G. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res. 1998, 8(3):186-194.
    • (1998) Genome Res. , vol.8 , Issue.3 , pp. 186-194
    • Brent, E.1    Phil, G.2
  • 19
    • 84924043727 scopus 로고    scopus 로고
    • (accessed 25.09.14).
    • The Human Genome Variation Society, (accessed 25.09.14). http://www.hgvs.org/.
  • 20
    • 84924052988 scopus 로고    scopus 로고
    • (accessed 25.09.14).
    • Hereditary Hearing Loss Homepage, (accessed 25.09.14). http://hereditaryhearingloss.org/.
  • 22
    • 0035096676 scopus 로고    scopus 로고
    • Connexin mutations in skin disease and hearing loss
    • Kelsell D.P., Di W.L., Houseman M.J. Connexin mutations in skin disease and hearing loss. Am. J. Hum. Genet. 2001, 68:559-568.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 559-568
    • Kelsell, D.P.1    Di, W.L.2    Houseman, M.J.3
  • 23
    • 63749102956 scopus 로고    scopus 로고
    • New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma
    • Iossa S., Chinetti V., Auletta G., Laria C., De Luca M., Rienzo M., et al. New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. Am. J. Med. Genet. A 2009, 15:685-688.
    • (2009) Am. J. Med. Genet. A , vol.15 , pp. 685-688
    • Iossa, S.1    Chinetti, V.2    Auletta, G.3    Laria, C.4    De Luca, M.5    Rienzo, M.6
  • 24
    • 17544402026 scopus 로고    scopus 로고
    • High carrier frequency of the 35delG deafness mutation in European populations. Genetic analysis consortium of GJB2 35delG
    • Gasparini P., Rabionet R., Barbujani G., Melchionda S., Petersen M., Brøndum-Nielsen K., et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic analysis consortium of GJB2 35delG. Eur. J. Hum. Genet. 2000, 8:19-23.
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 19-23
    • Gasparini, P.1    Rabionet, R.2    Barbujani, G.3    Melchionda, S.4    Petersen, M.5    Brøndum-Nielsen, K.6
  • 25
    • 0036024313 scopus 로고    scopus 로고
    • High-throughput screening for GJB2 mutations-its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations
    • Sugata A., Fukushima K., Sugata K., Fukuda S., Kimura N., Gunduz M., et al. High-throughput screening for GJB2 mutations-its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations. Auris Nasus Larynx 2002, 29:231-239.
    • (2002) Auris Nasus Larynx , vol.29 , pp. 231-239
    • Sugata, A.1    Fukushima, K.2    Sugata, K.3    Fukuda, S.4    Kimura, N.5    Gunduz, M.6
  • 27
    • 0033812813 scopus 로고    scopus 로고
    • Connexin26 mutations associated with nonsyndromic hearing loss
    • Park H.J., Hahn S.H., Chun Y.M., Park K., Kim H.N. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000, 110:1535-1538.
    • (2000) Laryngoscope , vol.110 , pp. 1535-1538
    • Park, H.J.1    Hahn, S.H.2    Chun, Y.M.3    Park, K.4    Kim, H.N.5
  • 29
    • 0036821083 scopus 로고    scopus 로고
    • The prevalence of connexin 26 (GJB2) mutations in the Chinese population
    • Liu X.Z., Xia X.J., Ke X.M., Ouyang X.M., Du L.L., Liu Y.H., et al. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum. Genet. 2002, 111:394-397.
    • (2002) Hum. Genet. , vol.111 , pp. 394-397
    • Liu, X.Z.1    Xia, X.J.2    Ke, X.M.3    Ouyang, X.M.4    Du, L.L.5    Liu, Y.H.6
  • 30
    • 17344373747 scopus 로고    scopus 로고
    • Mutations in the gene encoding gap junction protein b-3 associated with autosomal dominant hearing impairment
    • Xia J.H., Liu C.Y., Tang B.S., Pan Q., Huang L., Dai H.P., et al. Mutations in the gene encoding gap junction protein b-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    Pan, Q.4    Huang, L.5    Dai, H.P.6
  • 31
    • 0035871208 scopus 로고    scopus 로고
    • Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
    • López-Bigas N., Olive M., Rabionet R., Ben-David O., Martinez-Matos J.A., Bravo O., et al. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum. Mol. Genet. 2001, 10:947-952.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 947-952
    • López-Bigas, N.1    Olive, M.2    Rabionet, R.3    Ben-David, O.4    Martinez-Matos, J.A.5    Bravo, O.6
  • 32
    • 0043133524 scopus 로고    scopus 로고
    • Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss
    • Uyguner O., Emiroglu M., Uzumcu A., Hafiz G., Ghanbari A., Baserer N., et al. Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. Clin. Genet. 2003, 64:65-69.
    • (2003) Clin. Genet. , vol.64 , pp. 65-69
    • Uyguner, O.1    Emiroglu, M.2    Uzumcu, A.3    Hafiz, G.4    Ghanbari, A.5    Baserer, N.6
  • 33
    • 0034018259 scopus 로고    scopus 로고
    • Mutations in connexin 31 underlie recessive as well as dominant non-syndromic hearing loss
    • Liu X.Z., Xia X.J., Xu L.R., Pandya A., Liang C.Y., Blanton S.H., et al. Mutations in connexin 31 underlie recessive as well as dominant non-syndromic hearing loss. Hum. Mol. Genet. 2000, 9:63-67.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 63-67
    • Liu, X.Z.1    Xia, X.J.2    Xu, L.R.3    Pandya, A.4    Liang, C.Y.5    Blanton, S.H.6
  • 34
    • 58849089531 scopus 로고    scopus 로고
    • Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31
    • Liu X.Z., Yuan Y., Yan D., Ding E.H., Ouyang X.M., Fei Y., et al. Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. Hum. Genet. 2009, 125:53-62.
    • (2009) Hum. Genet. , vol.125 , pp. 53-62
    • Liu, X.Z.1    Yuan, Y.2    Yan, D.3    Ding, E.H.4    Ouyang, X.M.5    Fei, Y.6
  • 35
    • 34548131103 scopus 로고    scopus 로고
    • A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China
    • Wang Q.J., Zhao Y.L., Rao S.Q., Guo Y.F., Yuan H., Zong L., et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin. Genet. 2007, 72:245-254.
    • (2007) Clin. Genet. , vol.72 , pp. 245-254
    • Wang, Q.J.1    Zhao, Y.L.2    Rao, S.Q.3    Guo, Y.F.4    Yuan, H.5    Zong, L.6
  • 36
    • 34249741683 scopus 로고    scopus 로고
    • Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum
    • Hu H., Wu L., Feng Y., Pan Q., Long Z., Li J., et al. Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. J. Hum. Genet. 2007, 52:492-497.
    • (2007) J. Hum. Genet. , vol.52 , pp. 492-497
    • Hu, H.1    Wu, L.2    Feng, Y.3    Pan, Q.4    Long, Z.5    Li, J.6
  • 37
    • 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., Namba A., Abe S., Usami S. 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    Namba, A.4    Abe, S.5    Usami, S.6
  • 38
    • 14244250194 scopus 로고    scopus 로고
    • Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans
    • Park H.J., Lee S.J., Jin H.S., Lee J.O., Go S.H., Jang H.S., et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin. Genet. 2005, 67:160-165.
    • (2005) Clin. Genet. , vol.67 , pp. 160-165
    • Park, H.J.1    Lee, S.J.2    Jin, H.S.3    Lee, J.O.4    Go, S.H.5    Jang, H.S.6
  • 40
    • 46049091536 scopus 로고    scopus 로고
    • Comparison of two-step transient evoked otoacoustic emissions (TEOAE) and automated auditory brainstem response (AABR) for universal newborn hearing screening programs
    • Benito-Orejas J.I., Ramirez B., Morais D., Almaraz A., Fernández-Calvo J.L. Comparison of two-step transient evoked otoacoustic emissions (TEOAE) and automated auditory brainstem response (AABR) for universal newborn hearing screening programs. Int. J. Pediatr. Otorhinolaryngol. 2008, 72(8):1193-1201.
    • (2008) Int. J. Pediatr. Otorhinolaryngol. , vol.72 , Issue.8 , pp. 1193-1201
    • Benito-Orejas, J.I.1    Ramirez, B.2    Morais, D.3    Almaraz, A.4    Fernández-Calvo, J.L.5
  • 41
    • 84865383452 scopus 로고    scopus 로고
    • The performance of distortion product otoacoustic emissions and automated auditory brainstem response in the same ear of the babies in neonatal unit
    • Abdul Wahid S.N., Md Daud M.K., Sidek D., Abd Rahman N., Mansor S., Zakaria M.N. The performance of distortion product otoacoustic emissions and automated auditory brainstem response in the same ear of the babies in neonatal unit. Int. J. Pediatr. Otorhinolaryngol. 2012, 76(9):1366-1369.
    • (2012) Int. J. Pediatr. Otorhinolaryngol. , vol.76 , Issue.9 , pp. 1366-1369
    • Abdul Wahid, S.N.1    Md Daud, M.K.2    Sidek, D.3    Abd Rahman, N.4    Mansor, S.5    Zakaria, M.N.6
  • 42
    • 33644697346 scopus 로고    scopus 로고
    • Comparison of hearing screening programs between one step with transient evoked otoacoustic emissions (TEOAE) and two steps with TEOAE and automated auditory brainstem response
    • Lin H.C., Shu M.T., Lee K.S., Ho G.M., Fu T.Y., Bruna S., et al. Comparison of hearing screening programs between one step with transient evoked otoacoustic emissions (TEOAE) and two steps with TEOAE and automated auditory brainstem response. Laryngoscope 2005, 115:1957-1962.
    • (2005) Laryngoscope , vol.115 , pp. 1957-1962
    • Lin, H.C.1    Shu, M.T.2    Lee, K.S.3    Ho, G.M.4    Fu, T.Y.5    Bruna, S.6
  • 43
    • 0344413842 scopus 로고    scopus 로고
    • A comparison of transient-evoked otoacoustic emissions and automated auditory brainstem responses for pre-discharge neonatal hearing screening
    • Clarke P., Iqbal M., Mitchell S. A comparison of transient-evoked otoacoustic emissions and automated auditory brainstem responses for pre-discharge neonatal hearing screening. Int. J. Audiol. 2003, 42:443-447.
    • (2003) Int. J. Audiol. , vol.42 , pp. 443-447
    • Clarke, P.1    Iqbal, M.2    Mitchell, S.3
  • 44
    • 0034572635 scopus 로고    scopus 로고
    • Universal newborn hearing screening with automated auditory brainstem response: a multisite investigation
    • Stewart D.L., Mehl A., Hall J.W., Thomson V., Carroll M., Hamlett J., et al. Universal newborn hearing screening with automated auditory brainstem response: a multisite investigation. J. Perinatol. 2000, 20:S128-S131.
    • (2000) J. Perinatol. , vol.20 , pp. S128-S131
    • Stewart, D.L.1    Mehl, A.2    Hall, J.W.3    Thomson, V.4    Carroll, M.5    Hamlett, J.6
  • 45
    • 84859000531 scopus 로고    scopus 로고
    • ABR-based newborn hearing screening with MB11 BERAphone using an optimized chirp for acoustical stimulation
    • Cebulla M., Shehata D.W. ABR-based newborn hearing screening with MB11 BERAphone using an optimized chirp for acoustical stimulation. Int. J. Pediatr. Otorhinolaryngol. 2012, 76(4):536-543.
    • (2012) Int. J. Pediatr. Otorhinolaryngol. , vol.76 , Issue.4 , pp. 536-543
    • Cebulla, M.1    Shehata, D.W.2
  • 47
    • 84907599041 scopus 로고    scopus 로고
    • Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations
    • Lee H.J., Jung J., Shin J.W., Song M.H., Kim S.H., Lee J.H., et al. Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. Clin. Genet. 2014, 86(3):270-275.
    • (2014) Clin. Genet. , vol.86 , Issue.3 , pp. 270-275
    • Lee, H.J.1    Jung, J.2    Shin, J.W.3    Song, M.H.4    Kim, S.H.5    Lee, J.H.6


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