Auditory screening concurrent deafness predisposing genes screening in 10,043 neonates in Gansu province, China

International Journal of Pediatric Otorhinolaryngology

Volumn 76, Issue 7, 2012, Pages 984-988

  Zhang, Zhewen ^a   Ding, Wenjuan ^a   Liu, Xiaowen ^a   Xu, Baicheng ^a   Du, Wan ^a   Nan, Shuling ^a   Guo, Yufen ^a,b  

^a LANZHOU UNIVERSITY   (China)

^b BEIJING HOSPITAL   (China)

Author keywords

Auditory screening; Genes; GJB2; MtDNA 12S rRNA; Newborn; SLC26A4

Indexed keywords

MITOCHONDRIAL DNA; RIBOSOME RNA;

ARTICLE; AUDITORY SCREENING; AUDITORY SYSTEM EXAMINATION; AUTOMATIC AUDITORY BRAINSTEM RESPONSE TEST; CHINA; CLINICAL ASSESSMENT; CLINICAL EFFECTIVENESS; FEMALE; GENE MUTATION; GENETIC SCREENING; HEARING IMPAIRMENT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LOW BIRTH WEIGHT; MAJOR CLINICAL STUDY; MALE; NEWBORN; OTOACOUSTIC EMISSION TEST; PREMATURITY; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SCREENING TEST;

CHINA; DEAFNESS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEARING TESTS; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING;

EID: 84861933954     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2012.03.016     Document Type: Article

References (24)

1. Mehl A.L., Thomson V. The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics 2002, 109:E7.
2. Morton C.C. Genetics, genomics and gene discovery in auditory system. Hum. Mol. Genet. 2002, 11:1229-1240.
3. Kennedy C., McCann D. Universal neonatal hearing screening moving from evidence to practice. Arch. Dis. Child. Fetal Neonatal Ed. 2004, 89(5):F378-F383.
4. Fortnum H.M., Summerfield A.Q., Marshall D.H., Davis A.C., Bamford J.M. Preva-lence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study. BMJ 2001, 323(7312):536-540.
5. Nance W.E., Lim B.G., Dodson K.M. Importance of congenital cytomegalovirus infections as a cause for pre-lingual hearing loss. J. Clin. Virol. 2006, 35:221-225.
6. Das V.K. Aetiology of bilateral sensorineural hearing impairment in children: a 10 year study. Arch. Dis. Child. 1996, 74:69-72.
7. Parving A. The need for universal neonatal hearing screening-some aspects of epidemiology and identification. Acta Paediatr. 1999, 432:69-72.
8. Robertson C.M., Howarth T.M., Bork D.L., Dinu I.A. Permanent bilateral sensory and neural hearing loss of children after neonatal intensive care because of extreme prematurity: a thirty-year study. Pediatrics 2009, 123(5):e797-e807.
9. Lü J.G., Huang Z.W., Yang T., Li Y., Mei L., Xiang M.L., et al. Screening for delayed-onset hearing loss in preschool children who previously passed the newborn hearing screening. Int. J. Pediatr. Otorhinolaryngol. 2011, 75(11):1045-1049.
10. Guo Y.F., Liu X.W., Guan J., Han M.K., Wang D.Y., Zhao Y.L., et al. GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. Acta Otolaryngol. 2008, 128:297-303.
11. Wang Q.-J., Zhao Y.-L., Rao S.-Q., Guo Y.F., He Y., Lan L., et al. Newborn hearing concurrent gene screening can improve care for hearing loss: a study on 14,913 Chinese newborns. Int. J. Pediatr. Otorhinolaryngol. 2011, 75(11):535-542.
12. Wang Q.J., Li Q.Z., Han D.Y., Zhao Y., Zhao L., Qian Y., et al. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation. Biochem. Biophys. Res. Commun. 2006, 340(2):583-588.
13. Price K.E. Aminoglycoside research 1975-1985: prospects for development of improved agents. Antimicrob. Agents Chemother. 1986, 29(4):543-548.
14. Estivill X., Govea N., Barceló E., Badenas C., Romero E., Moral L., et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am. J. Hum. Genet. 1998, 62(1):27-35.
15. Wu C.C., Chen P.J., Chiu Y.H., Lu Y.C., Wu M.C., Hsu C.J. Prospective mutation screening of three common deafness genes in a large Taiwanese Cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities. Audiol. Neurootol. 2008, 13(3):172-181.
16. Guo Y.F., Liu X.W., Xu B.C., Zhu Y.M., Wang Y.L., Zhao F.F., et al. Analysis of a large-scale screening of mitochondrial DNA m.1555A>G mutation in 2417 deaf-mute students in Northwest of China. Genet. Test Mol. Biomarkers 2010, 14(4):527-531.
17. Chen D., Chen X., Cao K., Zuo J., Jin X., Wei C., et al. High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients. ORL: J. Otorhinolaryngol. Relat. Spec. 2009, 71:212-215.
18. Kenneson A., Van Naarden Braun K., Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a huge review. Genet. Med. 2002, 4(4):258-274.
19. 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.
20. 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.
21. 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.
22. Park H.J., Lee S.J., Jin H.S., Lee J.O., G.O.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.
23. 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(3):245-254.
24. Northern L.J. Universal screening for infant hearing impairment. Pediatrics 1994, 94:955-959.