Abstract
This study aimed to assess mutations in GJB2 gene (connexin 26), as well as A1555G mitochondrial mutation in both the patients with profound genetic nonsyndromic hearing loss and healthy controls. Ninety-five patients with profound hearing loss (>90 dB) and 67 healthy controls were included. All patients had genetic nonsyndromic hearing loss. Molecular analyses were performed for connexin 26 (35delG, M34T, L90P, R184P, delE120, 167delT, 235delC and IVS1+1 A → G) mutations, and for mitochondrial A1555G mutation. Twenty-two connexin 26 mutations were found in 14.7% of the patients, which were 35delG, R184P, del120E and IVS1+1 A → G. Mitochondrial A1555G mutation was not encountered. The most common GJB2 gene mutation was 35delG, which was followed by del120E, IVS1+1 A → G and R184P, and 14.3% of the patients segregated with DFNB1. In consanguineous marriages, the most common mutation was 35delG. The carrier frequency for 35delG mutation was 1.4% in the controls. 35delG and del120E populations, seems the most common connexin 26 mutations that cause genetic nonsyndromic hearing loss in this country. Nonsyndromic hearing loss mostly shows DFNB1 form of segregation.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Abe S., Kelley P. M., Kimberling W. J. and Usami S. I. 2001 Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A → G mitochondrial mutation. Am. J. Med. Genet. 103, 334–338.
Abe S., Usami S., Shinkawa H., Kelley P. M. and Kimberling W. J. 2000 Prevalent connexin 26 gene (GJB2) mutations in Japanese. J. Med. Genet. 37, 41–43.
Bayazit Y. A. and Yilmaz M. 2006 An overview of hereditary hearing loss. ORL J. Oto-Rhino-Laryngology Relat. Spec. 68, 57–63.
Bayazit Y. A., Cable B. B., Cataloluk O., Kara C., Chamberlin P., Smith R. J. et al. 2003 GJB2 gene mutations causing familial hereditary deafness in Turkey. Int. J. Pediatr. Otorhinolaryngol. 67, 1331–1335.
Brobby G. W., Muller-Mhysok B. and Hortsman R. D. 1998 Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N. Engl. J. Med. 338, 548–550.
Carrasquillo M. M., Zlotogora J., Barges S. and Chakravarti A. 1997 Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum. Mol. Genet. 6, 2163–2172.
Denoyelle F., Weil D., Maw M. A., Wilcox S. A., Lench N. J., Allen Powell D. R. et al. 1997 Prelingual deafness:high prevalance of a 30delG mutation in the connexin26 gene Hum. Mol. Gen. 6, 2173–2177.
Estivill X., Fortina P., Surrey S., Rabionet R., Melchionda S., D’Agruma L. et al. 1998 Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351, 394–398.
Fischel-Ghodsian N., Prezant T. R., Chaltraw W. E. et al. 1997 Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity. Am. J. Otolaryngol. 18, 173–178.
Fuse Y., Doi K., Hasegawa T., Sugii A., Hibino H. and Kubo T. 1999 Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. Neuroreport 10, 1853–1857.
Gabriel H., Kupsch P., Sudendey J., Winterhager E., Jahnke K. and Lautermann J. 2001 Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum. Mutat. 17, 521–522.
Gasparini P., Rabionet R., Barbujani G., Melchionda S., Petersen M., Brondum-Nielsen et al. 2000 Genetic Analysis Consortium of GJB2 35delG: High carrier frequency of the 35 delG deafness mutation in European populations. Eur. J. Hum. Genet. 8, 19–23
Hammelmann C., Amedofu G. K., Albrecht K., Muntau B., Gelhaus A., Brobby G. W. et al. 2001 Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum. Mutat. 18, 84–85.
Jaber L., Shohat M., Bu X., Fischel-Ghodsian N., Yang H. Y., Wang S. J. and Rotter J. I. 1992 Sensorineural deafness inherited as a tissue specific mitochondrial defect. J. med. Genet. 29, 86–90.
Kalay E., Caylan R., Kremer H., de Brouwer A. P. and Karaguzel A. 2005 GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations. Hear Res. 203, 88–93.
Kelley P. M., Harris D. J., Comer B. C., Askew J. W., Fowler T., Smith S. D. et al. 1998 Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am. J. Hum. Genet. 62, 792–799.
Lalwani A. K. and Castelein C. M. 1999 Cracking the auditory genetic code: Nonsyndromic hereditory hearing impairments. Am. J. Otoloringologiya. 20, 115–132.
Lench N., Huoseman M., Newton V., Van Camp G. and Mueller R. 1998 Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 351, 415.
Morell R. J., Kim H. J., Hood L. J., Goforth L., Friderici K., Fisher R., et al. 1998 Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N. Engl. J. Med. 339, 1500–1505.
Pandya A., Xia X. J., Erdenetungalag R., Amendola M., Landa B., Radnaabazar J. et al. 1999 Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. Am. J. Hum. Genet. 65, 1803–1806.
Rabionet R., Zelante L., Lopez-Bigas N., D’Aruma L., Melchionda S. et al. 2000 Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin26) gene. Hum. Genet. 1, 40–44.
Scott D. A., Kraft M. L., Stone E. M., Sheffield V. C. and Smith R. J. 1998 Connexin mutations and hearing loss. Nature 391, 32.
Tekin M., Akar N., Cin S., Blanton S. H., Xia X. J., Liu X. Z. et al. 2001 Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians. Hum. Genet. 108, 385–389.
Tekin M., Duman T., Bogoclu G., Incesulu A., Comak E., Ilhan I. and Akar N. 2003a Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating. Hum. Mutat. 21, 552–553.
Tekin M., Duman T., Bogoclu G., Incesulu A., Comak E., Fitoz S. et al. 2003b Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Eur. J. Pediatr. 162, 154–158.
Tekin M., Bogoclu G., Arican S. T., Orman M. N., Tastan H., Elsobky E. et al. 2005 Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia. Clin. Genet. 67, 31–37.
Topol E. J., Califf R. M., Wilcox R. et al. 1998 Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N. Engl. J. Med. 338, 546–547.
Usami S., Abe S., Akita J., Namba A., Shinkawa H., Ishii M. et al. 2000 Prevalence of mitochondrial gene mutations among hearing impaired patients. J. Med. Genet. 37, 38–40.
Uyguner O., Emiroglu M., Uzumcu A., Hafiz G., Ghanbari A., Baserer N. et al. 2003 Frequencies of gap-and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. Clin. Genet. 64, 65–69.
Zelante L., Gasparini P., Estivill X., Melchionda S., D’Agruma L., Govea N. et al. 1997 Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum. Mol. Genet. 6, 1605–1609.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Baysal, E., Bayazit, Y.A., Ceylaner, S. et al. GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals. J Genet 87, 53–57 (2008). https://doi.org/10.1007/s12041-008-0007-5
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12041-008-0007-5