سامانه مدیریت نشریات علمی دانشگاه علوم پزشکی مشهد

Hajilari, Maryam, Sharifinya, Atefeh, Khosravi, Teymoor, Kianmehr, Anvarsadat, Taziki, Mohammad Hossein, Khosravi, Ayyoob, Oladnabi, Morteza. (1401). Frequency of c.35delG Mutation in GJB2 gene in Patients with Autosomal Recessive Non-Syndromic Hearing Loss of Five Ethnic Groups in Golestan, Iran. , 11(1), 17286-17298. doi: 10.22038/ijp.2023.69158.5122
Maryam Hajilari; Atefeh Sharifinya; Teymoor Khosravi; Anvarsadat Kianmehr; Mohammad Hossein Taziki; Ayyoob Khosravi; Morteza Oladnabi. "Frequency of c.35delG Mutation in GJB2 gene in Patients with Autosomal Recessive Non-Syndromic Hearing Loss of Five Ethnic Groups in Golestan, Iran". , 11, 1, 1401, 17286-17298. doi: 10.22038/ijp.2023.69158.5122
Hajilari, Maryam, Sharifinya, Atefeh, Khosravi, Teymoor, Kianmehr, Anvarsadat, Taziki, Mohammad Hossein, Khosravi, Ayyoob, Oladnabi, Morteza. (1401). 'Frequency of c.35delG Mutation in GJB2 gene in Patients with Autosomal Recessive Non-Syndromic Hearing Loss of Five Ethnic Groups in Golestan, Iran', , 11(1), pp. 17286-17298. doi: 10.22038/ijp.2023.69158.5122
Hajilari, Maryam, Sharifinya, Atefeh, Khosravi, Teymoor, Kianmehr, Anvarsadat, Taziki, Mohammad Hossein, Khosravi, Ayyoob, Oladnabi, Morteza. Frequency of c.35delG Mutation in GJB2 gene in Patients with Autosomal Recessive Non-Syndromic Hearing Loss of Five Ethnic Groups in Golestan, Iran. , 1401; 11(1): 17286-17298. doi: 10.22038/ijp.2023.69158.5122

Frequency of c.35delG Mutation in GJB2 gene in Patients with Autosomal Recessive Non-Syndromic Hearing Loss of Five Ethnic Groups in Golestan, Iran

Journal of Pediatric Perspectives
مقاله 10، دوره 11، شماره 1، فروردین 2023، صفحه 17286-17298    اصل مقاله (437.94 K)
نوع مقاله: original article
شناسه دیجیتال (DOI): 10.22038/ijp.2023.69158.5122
نویسندگان
Maryam Hajilari1؛ Atefeh Sharifinya2؛ Teymoor Khosravi3؛ Anvarsadat Kianmehr4؛ Mohammad Hossein Taziki5؛ Ayyoob Khosravi6؛ Morteza Oladnabi* 7
1Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran
2Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran.
3Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran.
4Department of Medical Biotechnology, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran.
5Department of Otorhinolaryngology, Golestan University of Medical Sciences, Gorgan, Iran.
6Department of Molecular Medicine Golestan University of Medical Sciences, Gorgan, Iran
7Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran
چکیده
Background: Hereditary Hearing Loss (HL) is one of the most prevalent sensorineural disorders worldwide. Several hundreds of genes have been reported to have associations with this condition. Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL), with the highest frequency of severe to profound types of deafness, is responsible for the majority of non-syndromic HL. DFNB1 locus containing gap junction beta-2 protein (GJB2) gene is the main reported pathogenic variant in most cases of non-syndromic deafness globally. In the present study, we investigated the allele frequency of c.35delG mutation among families with different ethnicities residing in Golestan province of Iran.
Methods: Audiological assessments, including pure-tone audiometry (PTA), tympanometry, and otoacoustic emission (OAE) tests, have been conducted to include and group subjects. Blood samples have been taken from probands and all their family members; and they have undergone allele-specific polymerase chain reaction (ASPCR) test. Moreover, direct sequencing has been performed to confirm the PCR results.
Results: In our study, 28 out of 128 families with ARNSHL had c.35delG mutation. We observed that 15.4% of subjects had c.35delG+/c.35delG+ genotype, 7.4% had c.35delG+/normal genotype and 77.2% had no c.35delG mutation. The overall allele frequency of c.35delG is 19.1%. Regarding the consanguineous marriage rate, the Sistani ethnic group showed the highest (91%), and Azeris had the lowest rates (55%).
Conclusion: The present work showed that severe forms of ARNSHL are associated with c.35delG homozygous mutation in comparison to other genotypes. We also demonstrated that c.35delG mutation is more prevalent in Turkmen and Fars ethnic groups in Golestan province of Iran.
کلیدواژه‌ها
Hearing Loss,,؛ ,،C.35delG Mutation,,؛ ,،GJB2 gene,,؛ ,،Connexin 26,,؛ ,،autosomal recessive nonsyndromic hearing loss (ARNSHL)
مراجع
  1. Morton CC, Nance WE. Newborn hearing screening—a silent revolution. New England Journal of Medicine. 2006; 354(20):2151-64.
  2. Shearer AE, Hildebrand MS, Smith RJ. Hereditary hearing loss and deafness overview. GeneReviews [Internet]. 2017.
  3. Mahdieh N, Rabbani B, Wiley S, Akbari MT, Zeinali S. Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations. Journal of human genetics. 2010; 55(10):639-48.
  4. Chan DK, Chang KW. GJB2‐associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype. The Laryngoscope. 2014; 124(2):E34-E53.
  5. Hilgert N, Smith RJ, Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutation Research/Reviews in Mutation Research. 2009; 681(2-3):189-96.
  6. Kenneson A, Van Naarden Braun K, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genetics in Medicine. 2002; 4(4):258-74.
  7. Goodenough DA, Goliger JA, Paul DL. Connexins, connexons, and intercellular communication. Annual review of biochemistry. 1996; 65(1):475-502.
  8. Tekin M, Arnos KS, Pandya A. Advances in hereditary deafness. The Lancet. 2001; 358(9287):1082-90.
  9. Zhao H-B. Hypothesis of K+-recycling defect is not a primary deafness mechanism for Cx26 (GJB2) deficiency. Frontiers in molecular neuroscience. 2017; 10:162.
  10. Azadegan‐Dehkordi F, Ahmadi R, Koohiyan M, Hashemzadeh‐Chaleshtori M. Update of spectrum c. 35delG and c.‐23+ 1G> A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss. Annals of human genetics. 2019; 83(1):1-10.
  11. Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brøndum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X. High carrier frequency of the 35delG deafness mutation in European populations. European Journal of Human Genetics. 2000; 8(1):19-23.
  12. Jerger J. Clinical experience with impedance audiometry. Archives of otolaryngology. 1970; 92(4):311-24.
  13. Scott D, Kraft M, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Camp GV, Smith RJ, Sheffield VC. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Human mutation. 1998; 11(5):387-94.
  14. Angeli S, Utrera R, Dib S, Chiossone E, Naranjo C, Henríquez O, Porta M. GJB2 gene mutations in childhood deafness. Acta oto-laryngologica. 2000; 120(2):133-6.
  15. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabédian É-N, Petit C. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counseling. The Lancet. 1999; 353(9161):1298-303.
  16. Angeli SI. Phenotype/genotype correlations in a DFNB1 cohort with ethnic diversity. The Laryngoscope. 2008; 118(11):2014-23.
  17. Yuan Y, Yu F, Wang G, Huang S, Yu R, Zhang X, Huang D, Han D, Dai P. Prevalence of the GJB2 IVS1+ 1G> A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2. Journal of translational medicine. 2010; 8(1):1-7.
  18. Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Camp GV, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. New England Journal of Medicine. 1998; 339(21):1500-5.
  19. Nishio S-y, Usami S-i. Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. Annals of Otology, Rhinology & Laryngology. 2015; 124(1_suppl):49S-60S.
  20. Salman M, Bashir R, Imtiaz A, Maqsood A, Mujtaba G, Iqbal M, Naz S. Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan. European Archives of Oto-Rhino-Laryngology. 2015; 272(8):2071-5.
  21. Tekin M, Xia XJ, Erdenetungalag R, Cengiz FB, White TW, Radnaabazar J, Dangaasuren B, Tastan H, Nance WE, Pandya A. GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. Annals of human genetics. 2010; 74(2):155-64.
  22. Banjara H, Mungutwar V, Swarnkar N, Patra P. Detection of connexin 26 GENE (GJB2) mutations in cases of congenital non syndromic deafness. Indian Journal of Otolaryngology and Head & Neck Surgery. 2016; 68(2):248-53.
  23. Zoidl G, Dermietzel R. Gap junctions in inherited human disease. Pflügers Archiv-European Journal of Physiology. 2010; 460(2):451-66.
24 Dzhemileva L, Posukh O, Barashkov N, Fedorova S, Teryutin F, Akhmetova V, Khidiyatova I, Khusainova R, Lobov S, Khusnutdinova E. Haplotype diversity and reconstruction of ancestral haplotype associated with the c. 35delG mutation in the GJB2 (Cx26) gene among the Volga-Ural populations of Russia. Acta Naturae (англоязычная версия). 2011; 3(3 (10)):52-63.

  1. Najmabadi H, Nishimura C, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi Farhadi M, Mohseni M, Mahdieh N, Ebrahimi A, Bazazzadegan N, Naghavi A, Avenarius M, Arzhangi S, Smith RJH. GJB2 mutations: passage through Iran. American Journal of Medical Genetics Part A. 2005; 133(2):132-7.
  2. Amorini M, Romeo P, Bruno R, Galletti F, Di Bella C, Longo P, Briuglia S, Salpietro C, Rigoli L. Prevalence of deafness‐associated connexin‐26 (GJB2) and connexin‐30 (GJB6) pathogenic alleles in a large patient cohort from Eastern Sicily. Annals of Human Genetics. 2015; 79(5):341-9.
  3. Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Sellars E, Nezhadi SH, Amini A, Arzhangi S, Jalalvand K, Jamali P, Mohammadi Z, Davarnia B, Nikuei P, Oladnabi M, Mohammadzadeh A, Zohrehvand E, Nejatizadeh A, Shekari M, Bagherzadeh M, Shamsi-Gooshki E, Börno S, Timmermann B, Haghdoost A, Najafipour R, Khorram Khorshid HR, Kahrizi K, Malekzadeh R, Akbari MR, Najmabadi H. Iranome: A catalog of genomic variations in the Iranian population. Human mutation. 2019; 40(11):1968-84.
  4. Saadat M, Ansari-Lari M, Farhud D. Short report consanguineous marriage in Iran. Annals of human biology. 2004; 31(2):263-9.
  5. Oladnabi M, Hasheminasab Gorji E, Mohammadi M, Lotfi S, Handlebar J, Dastaviz F, Bagheri A. Hereditary and Non-hereditary Pattern of Deafness in Golestan Province, Iran. Journal of Mazandaran University of Medical Sciences. 2021; 31(199):174-8.
  6. Hajilari M, Oladnabi M, Kianmehr A, Taziki MH, Zamiri Abdollahi F. Hereditary hearing loss and consanguinity in Turkmen population of Iran: a retrospective study. International Journal of Pediatrics. 2019; 7(11):10323-34.
  7. Koohiyan M, Koohian F, Azadegan‐Dehkordi F. GJB2‐related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations. Annals of Human Genetics. 2020; 84(2):107-13.
  8. Koohiyan M, Azadegan-Dehkordi F, Koohian F, Hashemzadeh-Chaleshtori M. Genetics of hearing loss in north Iran population: An update of spectrum and frequency of GJB2 mutations. Journal of Audiology & Otology. 2019; 23(4):175.
  9. Bazazzadegan N, Nikzat N, Fattahi Z, Nishimura C, Meyer N, Sahraian S, Jamali P, Babanejad M, Kashef A, Yazdan H, Sabbagh Kermani F, Taghdiri M, Azadeh B, Mojahedi F, Khoshaeen A, Habibi H, Reyhanifar F, Nouri N, Smith RJH, Kahrizi K, Najmabadi H. The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss—a twelve year study. International journal of pediatric otorhinolaryngology. 2012; 76(8):1164-74.
  10. Hosseinipour A, Chaleshtori MH, Sasanfar R, Farhud D, Tolooi A, Doulati M, et al. Report of a new mutation and frequency of connexin 26 gene (GJB2) mutations in patients from three provinces of Iran. Iranian Journal of Public Health. 2005; 34(1):47-50.
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