Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss

International Journal of Pediatric Otorhinolaryngology

Volumn 76, Issue 2, 2012, Pages 265-267

  Chen, Peiwei ^a   Chen, Hui ^a   Fu, Siqing ^b   Chen, Guanming ^b   Dong, Jiashu ^c  

^a The Central Hospital of Enshi Tujia and Miao Autonomous Prefecture   (China)

^b HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^c Rehabilitation Research Center for Deaf Children   (China)

Author keywords

Chinese population; Del(GJB6 D13S1830); GJB6 gene; Non syndromic hearing loss

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINA; CHINESE; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GJB6 GENE; HEARING LOSS; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NONSYNDROMIC HEARING LOSS; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; AGE DISTRIBUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; CHINA; CONNEXINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MUTATION; PREVALENCE; SENSITIVITY AND SPECIFICITY; SEX DISTRIBUTION; YOUNG ADULT;

EID: 84855948684     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2011.11.018     Document Type: Article

References (34)

1. Morton C.C., Nance W.E. Newborn hearing screening: a silent revolution. N. Engl. J. Med. 2006, 354:2151-2164.
2. Smith R.J., Van Camp G. Deafness and Hereditary Hearing Loss Overview. GeneReview at GeneTests 2009, Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book_gene&part_deafness-overview (accessed June 16, 2009).
3. Morton N.E. Genetic epidemiology of hearing impairment. Ann. N. Y. Acad. Sci. 1991, 630:6-31.
4. Hilgert N., Smith R.J.H., Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?. Mutat. Res. 2009, 681:189-196.
5. Marlin S., Feldmann D., Blons H., Loundon N., Rouillon I., Albert S., et al. GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch. Otolaryngol. Head Neck Surg. 2005, 131:481-487.
6. Lerer I., Sagi M., Ben-Neriah Z., Wang T., Levi H., Abeliovich D. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi Jews. Hum. Mutat. 2001, 18:460-469.
7. Pallares-Ruiz N., Blanchet P., Mondain M., Claustres M., Roux A.F. A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?. Eur. J. Hum. Genet. 2002, 10:72-76.
8. del Castillo I., Villamar M., Moreno-Pelayo M.A., del Castillo F.J., A'lvarez A., Telleria D., et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N. Engl. J. Med. 2002, 346:243-249.
9. del Castillo I., Moreno-Pelayo M.A., del Castillo F.J., Brownstein Z., Marlin S., Adina Q., et al. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am. J. Hum. Genet. 2003, 73:1452-1458.
10. Bolz H., Schade G., Ehmer S., Kothe C., Hess M., Gal A. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6. Hear. Res. 2004, 188:42-46.
11. Batissoco A.C., Abreu-Silva R.S., Braga M.C., Lezirovitz K., Della-Rosa V., Alfredo T., et al. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. Ear Hear. 2009, 30:1-7.
12. 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. Neurootol. 2007, 12:198-208.
13. Yuan Y., You Y., Huang D., Cui J., Wang Y., Wang Q., et al. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. J. Transl. Med. 2009, 7:79.
14. Stephens D. Audiological terms. Definitions, Protocols and Guidelines in Genetic Hearing Impairments 2001, 9-14. Whurr Publishers, Letchworth. A. Martini, A. Read, D. Stephens, M. Mazzoli, A. Martini (Eds.).
15. Chen G., He F., Fu S., Dong J. 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.
16. 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.
17. Estivill X., Fortina P., Surrey S., Rabionet R., Melchionda S., D'Agruma L., et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998, 351:394-398.
18. Gabriel H., Kupsch P., Sudendey J., Winterhager E., Jahnke K., Lautermann J. Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum. Mutat. 2001, 17:521-522.
19. Morell R.J., Kim H.J., Hood L.J., Goforth L., Friderici K., Fisher R., et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N. Engl. J. Med. 1998, 339:1500-1505.
20. Wilcox S.A., Saunders K., Osborn A.H., Arnold A., Wunderlich J., Kelly T., et al. High frequency hearing loss correlated with mutations in the GJB2 gene. Hum. Genet. 2000, 106:399-405.
21. Roux A.F., Pallares-Ruiz N., Vielle A., Faugere V., Templin C., Leprevost D., et al. Molecular epidemiology of DFNB1 deafness in France. BMC Med. Genet. 2004, 5:5.
22. Dai P., Yu F., Han B., Yuan Y.Y., Li Q., Wang G.J., et al. The prevalence of the 235delC GJB2 mutation in a Chinese Deaf population. Genet. Med. 2007, 9:283-289.
23. Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N., Parry G., et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997, 387:80-83.
24. Chen N., Xu C., Han B., Wang Z.Y., Song Y.L., Li S., et al. G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family. J. Dermatol. 2010, 37:559-561.
25. Zhang X.J., Chen J.J., Yang S., Cui Y., Xiong X.Y., He P.P., et al. A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. J. Dermatol. Sci. 2003, 32:11-17.
26. Kelley P.M., Harris D.J., Comer B., Askew J.W., Fowler T., Smith S.D., et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am. J. Hum. Genet. 1998, 62:792-799.
27. Lee K.Y., Choi S.Y., Bae J.W., Kim S., Chung K.W., Drayna D., et al. Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. Int. J. Pediatr. Otorhinolaryngol. 2008, 72:1301-1309.
28. Bhalla S., Sharma R., Khandelwal G., Panda N.K., Khullar M. Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss. Int. J. Pediatr. Otorhinolaryngol. 2011, 75:356-359.
29. 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.
30. Esmaeili M., Bonyadi M., Nejadkazem M. Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness. Int. J. Pediatr. Otorhinolaryngol. 2007, 71:869-873.
31. Mahasneh A.A., Al-Asseer M.H. Screening of GJB6 gene for the 342-kb deletion inpatients from Jordan with non syndromic hearing loss. Int. J. Hum. Genet. 2005, 5:253-257.
32. Neocleous V., Aspris A., Shahpenterian V., Nicolaou V., Panagi C., Ioannou I., et al. High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss. Genet. Test. 2006, 10:285-289.
33. Frei K., Ramsebner R., Lucas T., Baumgartner W.D., Schoefer C., Wachtler F.J., et al. Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. Hear. Res. 2004, 196:115-118.
34. Gravina L.P., Foncuberta M.E., Prieto M.E., Garrido J., Barreiro C., Chertkoff L. Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. Int. J. Pediatr. Otorhinolaryngol. 2010, 74:250-254.