Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews

References

• Morton CC, Nance WE. Newborn hearing screening-a silent revolution. N Engl J Med. 2006;354(20):2151–64. doi: 10.1056/NEJMra050700.
   PubMed Web of Science ®Google Scholar
• Guilford P, Ben Arab S, Blanchard S, et al. A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet. 1994;6(1):24–8. doi: 10.1038/ng0194-24.
   PubMed Web of Science ®Google Scholar
• Angeli SI. Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. Laryngoscope. 2008;118(11):2014–23. doi: 10.1097/MLG.0b013e31817fb7ad.
   PubMed Web of Science ®Google Scholar
• Smith RJH, Jones MKN. Nonsyndromic hearing loss and deafness, DFNB1. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews^®. Seattle (WA): University of Washington, Seattle; 1993. https://www.ncbi.nlm.nih.gov/pubmed/20301449
   Google Scholar
• Sloan-Heggen CM, Bierer AO, Shearer AE, et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016;135(4):441–50. doi: 10.1007/s00439-016-1648-8.
   PubMed Web of Science ®Google Scholar
• Marlin S, Feldmann D, Blons H, 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(6):481–7. doi: 10.1001/archotol.131.6.481.
   PubMedGoogle Scholar
• 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(5):460. doi: 10.1002/humu.1222.
   PubMedGoogle Scholar
• Del Castillo FJ, Del Castillo I. DFNB1 non-syndromic hearing impairment: diversity of mutations and associated phenotypes. Front Mol Neurosci. 2017;10:428.
   PubMedGoogle Scholar
• Alford RL, Arnos KS, Fox M, et al. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med. 2014;16(4):347–55.
   PubMed Web of Science ®Google Scholar
• Hoefsloot LH, Roux AF, Bitner-Glindzicz M. EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. Eur J Hum Genet. 2013;21(11):1325–9.
   Google Scholar
• Ahmad S, Chen S, Sun J, Lin X. Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice. Biochem Biophys Res Commun. 2003;307(2):362–8.
   PubMed Web of Science ®Google Scholar
• Pandya A, Arnos KS, Xia XJ, et al. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med. 2003;5(4):295–303. doi: 10.1097/01.GIM.0000078026.01140.68.
   PubMed Web of Science ®Google Scholar
• Paz-y-Mino C, Beaty D, Lopez-Cortes A, Proano I. Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population. Int J Pediatr Otorhinolaryngol. 2014;78(10):1648–54. doi: 10.1016/j.ijporl.2014.07.014.
   PubMed Web of Science ®Google Scholar
• Batissoco AC, Abreu-Silva RS, Braga MC, 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):1–7. doi: 10.1097/AUD.0b013e31819144ad.
   PubMed Web of Science ®Google Scholar
• Mahdieh N, Bagherian H, Shirkavand A, Sharafi M, Zeinali S. High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene. Int J Pediatr Otorhinolaryngol. 2010;74(9):1089–91. doi: 10.1016/j.ijporl.2010.06.005.
   PubMed Web of Science ®Google Scholar
• Kahrizi K, Bazzaz-Zadegan N, Mohseni M, et al. Prevalence study of GJB2 gene mutations in Iranian ethnics. Arch Rehabil. 2007;8(3):35–41.
   Google Scholar
• Bonyadi MJ, Fotouhi N, Esmaeili M. Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. Int J Pediatr Otorhinolaryngol. 2014;78(4):637–40. doi: 10.1016/j.ijporl.2014.01.022.
   PubMed Web of Science ®Google Scholar
• Daneshi A, Ajalloueyan M, Ghasemi MM, et al. Complications in a series of 4400 paediatric cochlear implantation. Int J Pediatr Otorhinolaryngol. 2015;79(9):1401–3. doi: 10.1016/j.ijporl.2015.05.035.
   PubMed Web of Science ®Google Scholar
• Falah M, Houshmand M, Akbaroghli S, Mahmodian S, Ghavami Y, Farhadi M. Profile of Iranian GJB2 mutations in young population with novel mutation. IJBMS. 2011;14(3):213–8.
   Google Scholar
• Falah M, Najafi M, Houshmand M, Farhadi M. Expression levels of the BAK1 and BCL2 genes highlight the role of apoptosis in age-related hearing impairment. Clin Interv Aging. 2016;11:1003–8.
   PubMed Web of Science ®Google Scholar
• Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215. doi: 10.1093/nar/16.3.1215.
   PubMed Web of Science ®Google Scholar
• Falah M, Houshmand M, Mahmoudian S, Emamdjomeh H, Ghavami Y, Farhadi M. The anticipation and inheritance pattern of c.487A > G mutation in the GJB2 gene. Arch Iran Med. 2012;15(1):49–51.
   PubMed Web of Science ®Google Scholar
• Mahdieh N, Rabbani B, Shirkavand A, et al. Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant. Genet Test Mol Biomark. 2011;15(7–8):489–93. doi: 10.1089/gtmb.2010.0145.
   PubMed Web of Science ®Google Scholar
• Firoozbakht M, Mahmoudian S, Alaeddini F, et al. Community-based newborn hearing screening programme for early detection of permanent hearing loss in Iran: an eight-year cross-sectional study from 2005 to 2012. J Med Screen. 2014;21(1):10–7. doi: 10.1177/0969141314522992.
   PubMed Web of Science ®Google Scholar
• Saadat M, Ansari-Lari M, Farhud DD. Consanguineous marriage in Iran. Ann Hum Biol. 2004;31(2):263–9. doi: 10.1080/03014460310001652211.
   PubMed Web of Science ®Google Scholar
• Shearer AE, Hildebrand MS, Smith RJH. Hereditary hearing loss and deafness overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews^®. Seattle (WA): University of Washington, Seattle; 1993.
   Google Scholar
• Bazazzadegan N, Nikzat N, Fattahi Z, et al. The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss—a twelve year study. Int J Pediatr Otorhinolaryngol. 2012;76(8):1164–74. doi: 10.1016/j.ijporl.2012.04.026.
   PubMed Web of Science ®Google Scholar
• del Castillo I, Villamar M, Moreno-Pelayo MA, et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med. 2002;346(4):243–9. doi: 10.1056/NEJMoa012052.
   PubMed Web of Science ®Google Scholar
• Najmabadi H, Nishimura C, Kahrizi K, et al. GJB2 mutations: passage through Iran. Am J Med Genet A. 2005;133A(2):132–7. doi: 10.1002/ajmg.a.30576.
   PubMed Web of Science ®Google Scholar
• Shirkavand A, Mahdieh N, Bagherian H, et al. Investigation of connexin 26 mutations and three large deletions spanning connexin 30 in 63 Iranian families with autosomal recessive non-syndromic hearing loss. Pathobiol Res. 2010;13(2):23–32.
   Google Scholar
• Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, 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(6):1452–8. doi: 10.1086/380205.
   PubMed Web of Science ®Google Scholar
• Gravina LP, Foncuberta ME, Prieto ME, 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(3):250–4. doi: 10.1016/j.ijporl.2009.11.014.
   PubMed Web of Science ®Google Scholar
• Chen P, Chen H, Fu S, Chen G, Dong J. Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol. 2012;76(2):265–7. doi: 10.1016/j.ijporl.2011.11.018.
   PubMed Web of Science ®Google Scholar
• Chen K, Wu X, Zong L, Jiang H. GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?. J. Clin. Lab. Anal 2018;32(9):e22592. doi: 10.1002/jcla.22592.
   PubMed Web of Science ®Google Scholar
• Evirgen N, Solak M, Derekoy S, et al. Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss. Genet Test. 2008;12(2):253–6. doi: 10.1089/gte.2007.0106.
   PubMedGoogle Scholar
• Uyguner O, Emiroglu M, Uzumcu A, et al. Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. Clin Genet. 2003;64(1):65–9. doi: 10.1034/j.1399-0004.2003.00101.x.
   PubMed Web of Science ®Google Scholar
• Bhalla S, Sharma R, Khandelwal G, Panda NK, Khullar M. Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol. 2011;75(3):356–9. doi: 10.1016/j.ijporl.2010.12.003.
   PubMed Web of Science ®Google Scholar
• Adhikary B, Ghosh S, Paul S, et al. Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India. Gene. 2015;573(2):239–45. doi: 10.1016/j.gene.2015.07.050.
   PubMed Web of Science ®Google Scholar
• Wonkam A, Bosch J, Noubiap JJ, Lebeko K, Makubalo N, Dandara C. No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans. S Afr Med J. 2015;105(1):23–6.
   PubMed Web of Science ®Google Scholar
• Supinger R. Process review of GJB6 reflex testing in individuals with 0 or 1 GJB2 pathogenic variants and non-syndromic hearing loss. Ohio State University; 2017. https://etd.ohiolink.edu/pg_10?0::NO:10:P10_ACCESSION_NUM:osu149247006405810
   Google Scholar
• del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, et al. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet. 2005;42(7):588–94. doi: 10.1136/jmg.2004.028324.
   PubMed Web of Science ®Google Scholar
• Stevenson VA, Ito M, Milunsky JM. Connexin-30 deletion analysis in connexin-26 heterozygotes. Genet Test. 2003;7(2):151–4. doi: 10.1089/109065703322146867.
   PubMedGoogle Scholar
• Rodriguez-Paris J, Tamayo ML, Gelvez N, Schrijver I. Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854). PLoS One. 2011;6(6):e21665. doi: 10.1371/journal.pone.0021665.
   PubMed Web of Science ®Google Scholar
• Boulay AC, del Castillo FJ, Giraudet F, et al. Hearing is normal without connexin30. J Neurosci. 2013;33(2):430–4. doi: 10.1523/JNEUROSCI.4240-12.2013.
   PubMed Web of Science ®Google Scholar
• Sloan-Heggen CM, Babanejad M, Beheshtian M, et al. Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet. 2015;52(12):823–9. doi: 10.1136/jmedgenet-2015-103389.
   PubMed Web of Science ®Google Scholar
• Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, et al. GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants. Int J Pediatr Otorhinolaryngol. 2018;107:121–6. doi: 10.1016/j.ijporl.2018.01.012.
   PubMed Web of Science ®Google Scholar
• Saeedi D, Onsori H. Investigation of the Connexin-30 gene deletion mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) among subjects with non-syndromic sensorineural hearing loss in Khorasan Razavi Province. SJIMU. 2017;25(4):52–9. doi: 10.29252/sjimu.25.4.52.
   Google Scholar
• Onsori H. Investigation of the GJB6 deletion mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian patients with autosomal-recessive non-syndromic hearing loss (ARNSHL). Braz Arch Biol Technol. 2016;59. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132016000100311
   Web of Science ®Google Scholar
• Haghighat-Nia A, Keivani A, Nadeali Z, Fazel-Najafabadi E, Hosseinzadeh M, Salehi M. Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran. Int J Pediatr Otorhinolaryngol. 2015;79(11):1892–5. doi: 10.1016/j.ijporl.2015.08.039.
   PubMed Web of Science ®Google Scholar
• Davarnia B, Babanejad M, Fattahi Z, et al. Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss. Int J Pediatr Otorhinolaryngol. 2012;76(2):268–71. doi: 10.1016/j.ijporl.2011.11.019.
   PubMed Web of Science ®Google Scholar
• 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(5):455–9. doi: 10.1017/S0022215110002999.
   PubMed Web of Science ®Google Scholar
• Tabatabaiefar MA, Montazer Zohouri M, Shariati L, et al. Mutation analysis of GJB2 and GJB6 genes and the genetic linkage analysis of five common DFNB loci in the Iranian families with autosomal recessive non-syndrom. J Sci I R Iran. 2010;21(2):105–112.
   Google Scholar
• Hamid M, Karimipoor M, Chaleshtori MH, Akbari MT. A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients. J Genet. 2009;88(3):359–62.
   PubMed Web of Science ®Google Scholar
• Naghavi A, Nishimura C, Kahrizi K, et al. GJB2 mutations in Baluchi population. J Genet. 2008;87(2):195–7.
   PubMed Web of Science ®Google Scholar
• 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(6):869–73. doi: 10.1016/j.ijporl.2007.02.007.
   PubMed Web of Science ®Google Scholar
• Rayhanifar F, Kahrizi K, Daneshi A, et al. Screening for autosomal recessive nonsyndromic hearing loss (DFNB1) among deaf patients of east and west Azarbaijan Provinces. Razi J Med Sci. 2006;12(49):71–6.
   Google Scholar
• Sadeghi A, Sanati MH, Alasti F, Ataei M, Hashemzadeh-Chaleshtori M. Mutation analysis of connexin 26 gene and del (GJB6-D13S1830) in patients with hereditary deafness from two provinces in Iran. Iran J Biotechnol. 2005;3(4):255–258.
   Google Scholar
• Kahrizi K, Shafeghati Y, Daneshi A, Jogataie M-T. Delta (GJB6-D13S1830) is not a common cause of nonsyndromic hearing loss in the Iranian population. Arch Iran Med. 2005;8(2):104–8.
   Google Scholar
• Mahdieh N, Nishimura C, Ali-Madadi K, et al. The frequency of GJB2 mutations and the Delta (GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population. Clin Genet. 2004;65(6):506–8. doi: 10.1111/j.1399-0004.2004.00262.x.
   PubMed Web of Science ®Google Scholar