Prevalence of A1555G mitochondrial mutation in Chinese newborns and the correlation with neonatal hearing screening

International Journal of Pediatric Otorhinolaryngology

Volumn 75, Issue 4, 2011, Pages 532-534

  Chen, Guanming ^a   Wang, Xiyin ^a   Fu, Siqing ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

Genetic screening; Hearing loss; Hearing screening; Mitochondrial mutation; Newborn

Indexed keywords

GENOMIC DNA; MITOCHONDRIAL RNA; RNA 12S;

ARTICLE; AUDITORY SCREENING; BLOOD EXAMINATION; CHINESE; CORRELATIONAL STUDY; DNA EXTRACTION; DNA SEQUENCE; EARLY DIAGNOSIS; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED OTOACOUSTIC EMISSION; FEASIBILITY STUDY; GENE MUTATION; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESCREENING; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; COHORT STUDIES; DNA, MITOCHONDRIAL; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; FALSE NEGATIVE REACTIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEARING LOSS, BILATERAL; HEARING TESTS; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; PREVALENCE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RISK ASSESSMENT; RNA, RIBOSOMAL; SENSITIVITY AND SPECIFICITY;

EID: 79952736104     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijporl.2011.01.013     Document Type: Article

References (25)

1. Oghalai J.S., Chen L., Brennan M.L., Tonini R., Manolidis S. Neonatal hearing loss in the indigent. Laryngoscope 2002, 112:281-286.
2. Sininger Y.S., Martinez A., Eisenberg L., Christensen E., Grimes A., Hu J. Newborn hearing screening speeds diagnosis and access to intervention by 20-25 months. J. Am. Acad. Audiol. 2009, 20:49-57.
3. Petit C., Levilliers J., Hardelin J.P. Molecular genetics of hearing loss. Annu. Rev. Genet. 2001, 35:589-646.
4. Smith R.J., Bale J.F., White K.R. Sensorineural hearing loss in children. Lancet 2005, 365:879-890.
5. Fischel-Ghodsian N. Mitochondrial deafness mutations reviewed. Hum. Mutat. 1999, 13:261-270.
6. Van Camp G., Smith R.J. Maternally inherited hearing impairment. Clin. Genet. 2000, 57:409-414.
7. Hu D.N., Qiu W.Q., Wu B.T., Fang L.Z., Zhou F., Gu Y.P., et al. Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. J. Med. Genet. 1991, 28:79-83.
8. Bu X., Xing G., Yan M. Audiological and molecular findings in a large family with maternally inherited sensorineural hearing loss. J. Audiol. Med. 2000, 9:61-69.
9. Li Z., Li R., Chen J., Liao Z., Zhu Y., Qian Y., et al. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. Hum. Genet. 2005, 117:9-15.
10. Liu X.Z., Angeli S., Ouyang X.M., Liu W., Ke X.M., Liu Y.H., et al. Audiological and genetic features of the mtDNA mutations. Acta Otolaryngol. 2008, 128:732-738.
11. Ouyang X.M., Yan D., Yuan H.J., Pu D., Du L.L., Han D.Y., et al. The genetic bases for non-syndromic hearing loss among Chinese. J. Hum. Genet. 2009, 54:131-140.
12. Green G.E., Smith R.J., Bent J.P., Cohn E.S. Genetic testing to identify deaf newborns. JAMA 2000, 284:1245.
13. Norris V., Arnos K.S., Hanks W.D., Xia X.J., Nance W.E., Pandya A. Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear. 2006, 27:732-741.
14. Burton S.K., Withrow K., Arnos K.S., Kalfoglou A.L., Pandya A. A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness. Genet. Med. 2006, 8:779-783.
15. Morton C.C., Nance W.E. Newborn hearing screening-a silent revolution. N. Engl. J. Med. 2006, 354:2151-2164.
16. Gunduz B., Bayazit Y.A., Celenk F., Saridoĝan C., Guclu A.G., Orcan E., et al. Absence of contralateral suppression of transiently evoked otoacoustic emissions in fibromyalgia syndrome. J. Laryngol. Otol. 2008, 122:1047-1051.
17. Norton S.J., Gorga M.P., Widen J.E., Folsom R.C., Sininger Y., -W B.C., et al. Identification of neonatal hearing impairment: summary and recommendations. Ear Hear. 2000, 21:529-535.
18. Fu S., Chen G., Dong J., Zhang L. Prevalence and etiology of hearing loss in primary and middle school students in the Hubei province of China. Audiol. Neurootol. 2010, 15:394-398.
19. Pan J. Risk factors for hearing loss in 16567 neonates. Chin. J. Perinat. Med. 2006, 9:275-276. (Chinese).
20. Cai Z., Huang L., En H., Peng S., Zhen Y., Qi B., et al. Infants hearing screening in thecoasted villages of Shandong province of China. Chin. J. Otorhinolaryngol. Head Neck Surg. 2006, 41:104-406. (Chinese).
21. Nie W., Gong L., Liu Y., Xiang L., Lin Q., Qi Y., et al. Hearing screening of 10501 newborns. Natl. Med. J. China 2003, 83:274-277. (Chinese).
22. Huang L., Cai Z., Zhang H., Peng S., Wu D., Wang L., et al. Study on multi-area universal newborn hearing screening in countryside of China. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2009, 23:737-742. (Chinese).
23. Estivill X., Govea N., Barcelo A., Perello E., Badenas C., Romero E., 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, 62:27-35.
24. Sun X., Qu C., Yang L., Yan J., Xia J., Chen Y., et al. Study on the disabilities in aged 0-7 years children in Shenzhen, China. Chin. J. Epidemiol. 2003, 24:1016-1019. (Chinese).
25. Fu S., Dong J., Wang C., Chen G. Parental attitudes toward genetic testing for prelingual deafness in China. Int. J. Pediatr. Otorhinolaryngol. 2010, 74:1122-1125.