SCREENING OF THE CONNEXIN 26 (35DELG) MUTATION IN EGYPTIAN PATIENTS WITH AUTOSOMAL RECESSIVE NONSYNDROMIC DEAFNESS AND ITS RELATION TO THE PATIENTS' IQ

Authors

  • ELHAM GABER Center for Genetic Engineering and Biotechnology and Medical Research Center, Ain Shams University, Cairo, Egypt
  • G. ABO EL FATH Pediatric Department, Genetics Unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt
  • M. F. M. KHALIL Ain Shams Center for Genetic Engineering and Biotechnology (ACGEB) Fac. of Agric. Ain shams University and Agriculture Research Center (ARC) Egypt
  • GHADA H. EL NADY Center for Genetic Engineering and Biotechnology and Medical Research Center, Ain Shams University, Cairo, Egypt

Abstract

Deafness is one of the most common and widespread congenital sensory disorder. Mutation in the connexin 26 (35delG) is considered the most frequent cause of the autosomal recessive nonsyndrome deafness (ARNSD). This study aimed to determine the prevalence of the Cx26 (35delG) mutation in the Egyptian population. To achieve this goal 120 patients were evaluated for this mutation. The Cx26 (35delG) was screened using amplified refractory mutation system analysis (ARMS) analysis. The Cx26 (35delG) mutation was found in the 29.2% and 50% in the patients as homozygous and compound heterozygous, respectively. These results were significantly very high in comparison with the control. The frequency of the mutant allele was 54.2% in this population. These findings revealed the presence of the studied mutation in the Egyptian population.

References

Banjara, H., V. Mungutwar, N. Swarnkar and P. Patra (2016). Detection of connexion 26 gene (GJB2) mutations in cases of congenital nonsyndromic deafness. Indian J. Otolaryngol Head Neck Surg., 68: 248-253.

Brauer, B., J. Braden, R. Pollard and S. Hardy-Braz (1998). Deaf and hard of hearing people. Chapter In Sandoval, J., Frisby, C., Geisinger, K., Scheuneman, J., & Grenier, J. (Eds.). Test Interpretation and Diversity: Achieving Equity in Assessment. 297-315. Washington, DC., American Psychological Association.

Cordeiro-Silva, M. D. F., A. Borbosa, M. Santiago, M. Provetti and E. R. Bortolini (2010). Prevalence of 35delG/GJB6-D13S1830) mutations in patients with no-syndromic deafness from a population of Espirito Santo-Brazil. Braz. J. Otorhinolaryngol, 76: 428-432.

Chan, D. K. and K. W. Chang (2014). GJB2-Associated Hearing Loss: Systematic Review of Worldwide, Prevalence, Genotype, and Auditory Phenotype. The Laryngoscope, 1240: E34:E53.

El-Barbary, N. E., M. F. El-Belbesy, S. I. Asal and S. F. Kholeif (2015). Detection of 35delG, 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss. The Egyptian Journal of Otolaryngology, 31: 42-46.

Frei, K., K. Szuhai, T. Lucas, K. Weipoltshammer, C. Schofer, R. Ramsebner, W. D. Baumgartner, A. K. Raap, R. Bittner, F. J. Wachtler and K. Kirschhofer (2002). Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. European J. of Human Genetics, 10: 427-432.

Kaskalan, E., E. E. Onalan, I. Kaygusuz, T. Karlıdağ, E. Keleş, A. Akyiğit and S. Yalcın (2014). Analysis of GJB2 (Connexin 26) mutation in patients with congenital nonsyndromic sensorineural hearing loss. Turk. Arch. Otolaryngol, 52: 1-6.

Mahasneh, A. A. and R. M. Battah (2006). Prevalence of connexin 26 mutations in patients from Jordon with non-syndromic hearing loss. Int. J. Hum. Genet., 6: 119-124.

Marlin, S., E. N. Garabedin, G. Roger, L. Moatti, N. Matha, P. Lewin, C. Petit and F. Denoyelle (2001). Connexin 26 gene mutation in congenitally deaf children. Arch. Otolaryngol Head Neck Surg., 127: 927-933.

Masindova, I., L. Varga, J. Stanik, L. Valentinova, M. Profant, I. Klimes and D. Gasperikova (2012). Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies. Endocrine Regulations, 46: 167- 186.

Mohamed, M. R., I. Alesutan, M. Föller, M. Sopjani, A. Bress, M. Baur, R. H. M. Salama, M. S. Bakr, M. A. Mohamed, N. Blin, F. Lang and M. Pfister (2010). Functional Analysis of a novel I71N mutation in the GJB2 gene among southern Egyptians causing autosomal recessive hearing loss. Cell Physiol. Biochem., 26: 959-966.

Mustafa, M. W. M. (2004). Prevalence of the Connexin 26 mutation 35delg in non-syndromic hearing loss in Egypt. The Inter. J. Otorhinolaryngology, 3: 1-4.

Petersen, M. B. and P. J. Willems (2006). Non-syndromic, autosomalrecessive deafness. Clin. Genet., 69: 371-392.

Serráo de Castro, L. S., A. N. D. R. Marinho, E. M. R. Rodrigues, G. C. T. Marques, T. A. Amorim de Carvalho, L. C. Santana da Silva and S. E. B. D. Santos (2013). A study of GJB2 and delGJB6- D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region, Brazil. Braz. J. Otorhinolaryngol, 79: 95-99.

Stanford-Binet (2003). Intelligence scales (SB-5), two years to adult. 5th ed. Available online at: http://www.riverpub.com/products/clinical/sbis5/home.html

Yoshikawa, S., A. Kawano, C. Hayashi, N. Nishiyama, S. Kawaguch, H. Furuse, K. Ikeda, M. Suzuki and M. Nakagawa (2011). The clinical features of patients with the homozygous 235delC and the compound- heterozygous Y136X/G45E of the GJB2 Mutations (Connexin 26) in cochlear implant recipients. Auris Nasus Larynx, 38: 444-449.

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Published

2017-08-06

Issue

Vol. 46 No. 1 (2017)

Section

Articles