Balkan Journal of Medical Genetics

GENETICS OF NON SYNDROMIC HEARING LOSS IN THE REPUBLIC OF MACEDONIA
Sukarova Stefanovska E1, Cakar M2, Filipce I2, Plaseska Karanfilska D1
*Corresponding Author: Emilija Sukarova Stefanovska, Ph.D., Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Av. Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel.: +389(0)2-3235-410; Fax: +389-(0)2-3115-434; E-mail: emilija@manu.edu.mk
page: 57

REFERENCES

1. Cohen MM, Gorlin RJ. Epidemiology, etiology and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM, Eds. Hereditary Hearing Loss and Its Syndromes. Oxford: Academic Press. 1995: 9-21. 2. Schrijver I. Hereditary non-syndromic sensorineural hearing loss. Transforming silence to sound. J Molec Diagn. 2004; 6(4): 275-284. 3. Petit C. From deafness genes to hearing mechanisms: harmony and counterpoint. Trends Mol Med. 2006; 12(2): 57-64. 4. Mese G, Londin E, Mui R, Brink PR, White TW. Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss. Hum Genet. 2004; 115(3): 191-199. 5. Rabionet R, Zelante L, Lopez-Bigas N, et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (Connexin 26) gene. Hum Genet. 2000; 106(1): 40-44. 6. Kennenson A, Van Naarden Brown K, Boyle C. GJB2 (Connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genet Med. 2002; 4(4): 258-274. 7. Zelante I, Gasparini P, Estivill X, et al. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet. 1997; 6(9): 1605-1609. 8. Morell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med. 1998; 339(21): 1500-1505. 9. Abe S, Kelly PM, Kimberling WJ, Usami SI. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A>G mitochondrial mutation. Am J Med Genet. 2001; 103(4): 334-338. 10. Sukarova Stefanovska E, Momirovska A, Cakar M, Efremov GD. GJB2 mutations in non syndromic hearing loss in the Republic of Macedonia. Balkan J Med Genet. 2009; 12(2): 11-17. 11. Del Castillo I, Villamar M, Moreno-Pelayo MA, et al. A deletion involving the connexion 30 gene in nonsyndromic hearing impairment. N Engl J Med. 2002; 346(4): 243-249. 12. 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 multi-center study. Am J Hum Genet. 2003; 73(6): 1452-1458. 13. Maniglia LP, Bruna Moreira CL, Menezes da Silva MA, Piatto VB, Maniglia JV. Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss. Rev Bras Otorinolaryngol. 2008; 74(5): 731-736. 14. Bardien S, Human H, Harris T, et al. A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness. BMC Med Genet. 2009; 10: 2.

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