Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss

Chinese Journal of Medical Genetics

Volumn 29, Issue 4, 2012, Pages 388-392

  Wang, Wei ^a   Cheng, Hong Bo ^a   Yang, Nian ^b   Shi, Yi Chao ^a   Liu, Jin Zhi ^b   Li, Qin ^b   Yang, Shen Min ^a   Shen, Li Yan ^a   Liu, Min Juan ^a   Chen, Ying ^a   Li, Hong ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

^b LINYI PEOPLE'S HOSPITAL   (China)

Author keywords

12S rRNA 1555A>G; GJB2 gene; Mitochondrial DNA; Non syndromic hearing loss

Indexed keywords

CONNEXIN 26; MITOCHONDRIAL DNA; RNA 12S;

ARTICLE; CHINA; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC COUNSELING; HEARING TEST; HOMOZYGOSITY; HUMAN; INTERVIEW; MAJOR CLINICAL STUDY; MEDICAL HISTORY; MIXED HEARING LOSS; NEUROLOGIC EXAMINATION; QUESTIONNAIRE;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONNEXINS; DNA, MITOCHONDRIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RNA, RIBOSOMAL;

EID: 84866762137     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2012.04.003     Document Type: Article

References (26)

1. Nance WE. The genetics of deafness. Ment Retard Dev Disabil Res Rev,2003,9:109-119. (Pubitemid 36666407)
2. Murgia A, Orzan E, Polli R, et al. Cx26 deafness: mutation analysis and clinical variability. J Med Genet,1999,36:829-832. (Pubitemid 29520572)
3. Khandelwal G, Bhalla S, Khullar M, et al. High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss. J Laryngol Otol,2009,123:273-277.
4. Ji YB, Han DY, Lan L, et al. Molecular epidemiological analysis of mitochondrial DNA 12S rRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China. Acta Otolaryngol,2011,131:124-129.
5. Chen G, Wang X, Fu S. Prevalence of A1555G mitochondrial mutation in Chinese newborns and the correlation with neonatal hearing screening. Int J Pediatr Otorhinolaryngol,2011,75:532-534.
6. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature,1981,290:457-465. (Pubitemid 11159074)
7. Lu YJ, Cheng HB, Xing GQ, et al. Analysis of GJB2 gene and mtDNA A1555G mutation in non-syndromic hearing loss patients. J Nanjing Med Univ (Nat Sci),2008:855-860.
8. Dai P, Liu X, Yu F, et al. Molecular etiology of patients with nonsyndromic hearing loss from deaf-mute schools in 18 provinces of China. Chin J Otol,2006,4:1-5.
9. Chen G, He F, Fu S, et al. GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China. Int J Pediatr Otorhinolaryngol,2011,75:1156-1159.
10. Li H, Li HB, Mao J, et al. Genetic screening of mutation hotspots for nonsyndromic hearing loss in southern Jiangsu province with SNaPshot. Chin J Med Genet,2011,28:383-386.
11. Todt I, Hennies HC, Basta D, et al. Vestibular dysfunction of patients with mutations of Connexin 26. Neuroreport,2005,16:1179-1181. (Pubitemid 41058464)
12. Posukh O, Pallares-Ruiz N, Tadinova V, et al. First molecular screening of deafness in the Altai Republic population. BMC Med Genet,2005,6:12.
13. Cordeiro-Silva MF, Barbosa A, Santiago M, et al. Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. Mol Biol Rep,2011,38:1309-1313.
14. Morell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med,1998,339,1500-1505. (Pubitemid 28543498)
15. Chang EH, Van Camp G, Smith RJ. The role of connexins in human disease. Ear Hear,2003,24,314-323. (Pubitemid 37022143)
16. Hayashi C, Funayama M, Li Y, et al. Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children. Int J Pediatr Otorhinolaryngol,2011,75:211-214.
17. Ji YB, Han DY, Lan L, et al. Molecular epidemiological analysis of mitochondrial DNA 12S rRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China. Acta Otolaryngol,2011,131:124-129.
18. Levit NA, Mese G, Basaly MG, et al. Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome. Biochim Biophys Acta,2011.
19. Scott CA, Kelsell DP. Key functions for gap junctions in skin and hearing. Biochem J,2011,438,245-254.
20. Shi GZ, Gong LX, Nie WY, et al. Mutations of GJB2 gene in infants with non-syndromic hearing impairment. Natl Med J China, 2005, 85: 689-692.
21. Choi SY, Lee KY, Kim HJ, et al. Functional evaluation of GJB2 variants in nonsyndromic hearing loss. Mol Med,2011,17:550-556.
22. Xu ZY, Gao GF, Liu C, et al. GJB2 gene mutation in deaf patients. Chin J Med Genet,2009,26:144-146.
23. Tekin M, Xia XJ, Erdenetungalag R, et al. GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. Ann Hum Genet,2010,74:155-164.
24. Li JR, Chen Y, Guo WB, et al. Analysis on mutations of GJB2 gene in Chinese population. Chin J Med Genet,2003,20:441-443. (Pubitemid 37267504)
25. Daneshi A, Hassanzadeh S, Emamdjomeh H, et al. Prevalence of GJB2 -associated deafness and outcomes of cochlear implantation in Iran. J Laryngol Otol,2011,125:455-459.
26. Xu J, Yao HB, Zhou Y, et al. An Analysis of the Effects of Cochlear Implantation for Children with GJB2 -related hearing loss. Chin Sci J Hearing Speech Reh,2011:25-28.