{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,23]],"date-time":"2024-09-23T04:00:03Z","timestamp":1727064003493},"reference-count":37,"publisher":"International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BST"],"published-print":{"date-parts":[[2017]]},"DOI":"10.5582\/bst.2017.01070","type":"journal-article","created":{"date-parts":[[2017,7,16]],"date-time":"2017-07-16T22:13:53Z","timestamp":1500243233000},"page":"460-468","source":"Crossref","is-referenced-by-count":4,"title":["Clinical data analysis of genotypes and phenotypes of deafness gene mutations in newborns: A retrospective study"],"prefix":"10.5582","volume":"11","author":[{"given":"Yating","family":"Du","sequence":"first","affiliation":[{"name":"Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihui","family":"Huang","sequence":"additional","affiliation":[{"name":"Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueyao","family":"Wang","sequence":"additional","affiliation":[{"name":"Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingjia","family":"Cui","sequence":"additional","affiliation":[{"name":"Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education"},{"name":"Beijing Rehabilitation Hospital, Capital Medical University; Rehabilitation Centre of Otolaryngology Head and Neck Surgery"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohua","family":"Cheng","sequence":"additional","affiliation":[{"name":"Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liping","family":"Zhao","sequence":"additional","affiliation":[{"name":"Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tingting","family":"Ni","sequence":"additional","affiliation":[{"name":"Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3542","reference":[{"key":"1","unstructured":"1. Mahboubi H, Dwabe S, Fradkin M, Kimonis V, Djalilian H.Genetics of hearing loss: Where are we standing now? Eur Arch Otorhinolaryngol. 2012; 269:1733-1745."},{"key":"2","unstructured":"3. Wang Q, Zhao Y, Lan L, Zhao C, Han M, Han D. Studies of the strategy for newborn gene screening. Chin J Otorhinolaryngol Head Neck Surg. 2007; 42:809-813. (in Chinese)"},{"key":"3","doi-asserted-by":"crossref","unstructured":"4. Green G, Smith R, Bent J, Cohn E. Genetic testing to identify deaf newborns. JAMA. 2000; 284:1245-1245.","DOI":"10.1001\/jama.284.10.1239"},{"key":"4","unstructured":"5. Dai P, Yu F, Han B, et al. Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China. Chin J Otorhinolaryngol Head Neck Surg. 2007; 42:804-808. (in Chinese)"},{"key":"5","doi-asserted-by":"crossref","unstructured":"6. Xia J, Liu C, Tang B, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998; 20:370-373.","DOI":"10.1038\/3845"},{"key":"6","unstructured":"7. Wang G, Dai P, Han D, et al. Application of DNA microarray in rapid genetic diagnosis of non-syndromic hearing loss. Zhong hua er ke xue za zhi. 2008; 6:61-66. (in Chinese)"},{"key":"7","doi-asserted-by":"crossref","unstructured":"8. Du Y, Huang L, Cheng X, Zhao L, Ruan Y, Ni T. Analysis of p.V37I compound heterozygous mutations in the GJB2 gene in Chinese infants and young children. Biosci Trends. 2016; 10:220-226.","DOI":"10.5582\/bst.2016.01096"},{"key":"8","doi-asserted-by":"crossref","unstructured":"9. Liden G. The scope and application of current audiometric tests. J Laryngol Otol. 1969; 83:507-520.","DOI":"10.1017\/S0022215100070651"},{"key":"9","doi-asserted-by":"crossref","unstructured":"10. Jerger J. Clinical experience with impedance audiometry. Arch Otolaryngol. 1970; 92:311-324.","DOI":"10.1001\/archotol.1970.04310040005002"},{"key":"10","doi-asserted-by":"crossref","unstructured":"11. Mazzoli M, Camp G, Newton V, Giarbini, N, Declau F, Parving A. Recommendations for the description of genetic and audiological data for families with nonsydromic hereditary hearing impairment. Audiological Medicine. 2003; 1:148-150.","DOI":"10.1080\/16513860301713"},{"key":"11","doi-asserted-by":"crossref","unstructured":"12. Kim S, Park G, Han K, et al. Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity. PLoS ONE. 2013; 8:e61592.","DOI":"10.1371\/journal.pone.0061592"},{"key":"12","unstructured":"13. Liu J, Huang L, Fu X, et al. The audiological characteristics of large vestibular aqueduct syndrome in infants and young children. J Clin Otorhinolaryngol Head Neck Surg (China). 2016; 30:1702-1709. (in Chinese)"},{"key":"13","unstructured":"14. Huang L, Han D, Zhang L, et al. Analysis of the found age and way for children age 0 to 6 with hearing loss. Chin J Otorhinolaryngol Head Neck Surg. 2006; 41:331-334. (in Chinese)"},{"key":"14","unstructured":"15. Yang Y, Huang L, Cheng X, Fu X, Liu J, Ni T. Analysis of the relationship between the found ways and first diagnosis age for large vestibular aqueduct Children. J Clin Otorhinolaryngol Head Neck Surg (China). 2014; 28:1754-1758. (in Chinese)"},{"key":"15","doi-asserted-by":"crossref","unstructured":"16. Lucotte G, Di\u00e9terlen F. The 35delG mutation in the connexin26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece. Genet Test. 2005; 9:20-25.","DOI":"10.1089\/gte.2005.9.20"},{"key":"16","doi-asserted-by":"crossref","unstructured":"17. Ohtsuka A, Yuge I, Kimura S, et al. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet. 2003; 12:329-333.","DOI":"10.1007\/s00439-002-0889-x"},{"key":"17","doi-asserted-by":"crossref","unstructured":"18. Wang Y, Kung C, Su M, et al. Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan. Eur J Hum Genet. 2002; 10:495-498.","DOI":"10.1038\/sj.ejhg.5200838"},{"key":"18","doi-asserted-by":"crossref","unstructured":"19. Dai P, Yu F, Han B, et al. The prevalence of the c.235delC GJB2 mutation in a Chinese deaf population. Genet Med. 2007; 99:283-289.","DOI":"10.1097\/GIM.0b013e31804d2371"},{"key":"19","doi-asserted-by":"crossref","unstructured":"20. Wang Q, Zhao Y, Rao S, et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. J Clin Genet. 2007; 72:245-254.","DOI":"10.1111\/j.1399-0004.2007.00862.x"},{"key":"20","doi-asserted-by":"crossref","unstructured":"21. Park H, Lee S, Jin H, et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet. 2005; 67:160-165.","DOI":"10.1111\/j.1399-0004.2004.00386.x"},{"key":"21","doi-asserted-by":"crossref","unstructured":"22. Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic heating loss associated with enlarged vestibular aqueduct: A unique spectrum of mutations in Japanese. Eur J Hum Genet. 2003; 11:916-922.","DOI":"10.1038\/sj.ejhg.5201073"},{"key":"22","doi-asserted-by":"crossref","unstructured":"23. Campbell C, Cucci R, 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.","DOI":"10.1002\/humu.1116"},{"key":"23","unstructured":"24. Han Y, Ma S. Recent Research Progress of GJB2 Gene Mutarions on Hereditary Nonsyndromic Hearing Loss. Yi xue zong shu. 2012; 18:2774-2777. (in Chinese)"},{"key":"24","doi-asserted-by":"crossref","unstructured":"25. Everett L, Glaser B, Beck J, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997; 17: 411-422.","DOI":"10.1038\/ng1297-411"},{"key":"25","doi-asserted-by":"crossref","unstructured":"26. Usami S, Abe S, Weston M, Shinkawa H, Van Camp G, Kimberling WJ. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet. 1999; 104:188-192.","DOI":"10.1007\/s004390050933"},{"key":"26","doi-asserted-by":"crossref","unstructured":"27. Wu B, Lindeman N, Lip V, et al. Effectiveness of sequencing connexin 26(GJB2) in eases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med. 2002; 4:279-288.","DOI":"10.1097\/00125817-200207000-00006"},{"key":"27","doi-asserted-by":"crossref","unstructured":"28. Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren S, Enerback S, Smith R. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct(DFNB4). Am J Hum Genet. 2007; 80:1055-1063.","DOI":"10.1086\/518314"},{"key":"28","doi-asserted-by":"crossref","unstructured":"29. Yang T, Gurrola J, Wu H, et al. Mutations of KCNJ10 together with mutations of SLC26A4 cause digenie nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet. 2009; 84: 65l-657.","DOI":"10.1016\/j.ajhg.2009.04.014"},{"key":"29","unstructured":"30. Wang G, Yuan Y, Li R, et a1. Analysis of positive rate of common genetic mutations in 1448 cases with different hearing phenotype. J Clin Otorhinolaryngol Head Neck Surg (China). 2011; 25:445-448. (in Chinese)"},{"key":"30","unstructured":"31. Choi B, Stewart A, Madeo A, et a1. Hypo-Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat. 2009; 30:599-608."},{"key":"31","doi-asserted-by":"crossref","unstructured":"32. Sato E, Nakashima T, Miura Y, et a1. Phenotypes associated with replacement of His by Arg in the pendred syndrome gene.Eur J Endocrinol. 2001; 145:697-703.","DOI":"10.1530\/eje.0.1450697"},{"key":"32","doi-asserted-by":"crossref","unstructured":"33. King K, Choi B, Zalewski C, et al. SLC26A4 genotype, but not cochlear radiologic structure,is correlated with hearing loss in ears with an enlarged vestibular aqueduct. Laryngoscope. 2010; 120:384-389.","DOI":"10.1002\/lary.20722"},{"key":"33","doi-asserted-by":"crossref","unstructured":"34. Liu X, Pandya A, Angeli S, et al. Audiological Features of GJB2 (Connexin 26) Deafness. Ear Hear. 2005; 26:361-369.","DOI":"10.1097\/00003446-200506000-00011"},{"key":"34","unstructured":"35. Dai Z, Sun B, Huang S, et al. Audiological Features\/Genotype Correlations in GJB2 Mutation. Chinese Journal of Otology. 2014; 12:34-36. (in Chinese)"},{"key":"35","doi-asserted-by":"crossref","unstructured":"36. Valvassori G, Clemis J. The large vestibular aqueduct syndrome. Laryngoscope. 1978; 99:1238-1243.","DOI":"10.1002\/lary.1978.88.5.723"},{"key":"36","doi-asserted-by":"crossref","unstructured":"37. Huang S, Han D, Yuan Y, et al. Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. J Transl Med. 2011; 30:167.","DOI":"10.1186\/1479-5876-9-167"},{"key":"37","unstructured":"38. Zhu Q, Zang W, Yuan Y, et al. Investigati on of SLC26A4 Mutations Associated with inner ear malformations. J Clin Otorhinolaryngol Head Neck Surg(China). 2012; 26:22-26. (in Chinese)"}],"container-title":["BioScience Trends"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/bst\/11\/4\/11_2017.01070\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,12]],"date-time":"2020-10-12T16:55:35Z","timestamp":1602521735000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/bst\/11\/4\/11_2017.01070\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":37,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.5582\/bst.2017.01070","relation":{},"ISSN":["1881-7815","1881-7823"],"issn-type":[{"value":"1881-7815","type":"print"},{"value":"1881-7823","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}