GJB2 MUTATIONS IN NON SYNDROMIC HEARING LOSS IN THE REPUBLIC OF MACEDONIA
Sukarova Stefanovska E1, Momirovska, A2,3, Cakar M4, Efremov GD1,*
*Corresponding Author: Georgi D. Efremov, Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Blv. Krste Misirkov 2, 1000 Skopje, R. Macedonia; Tel.: +389-2-32-35-411; fax: +389-2-31-15-434; E-mail: gde@manu.edu.mk
page: 11

REFERENCES

1. Van Camp G, Willems PJ, Smith RJH. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 1997; 60(4): 758-764.

2. OMIM – Online Mendelian Inheritance in Man (www.ncbi.nlm.nih.gov/sites/entrez?db=omim).

3. Van Camp G, Smith RJH. Hereditary Hearing Loss Homepage (http://webhost.ua.ac.be/hhh/).

4. Zelante I, Gasparini P, Estivill X, Melchionda S, D’Arguma L, Govea N, Mila M, Monica MDS, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. 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.

5. Kennerson 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.

6. Kelley PM, Abe S, Askew JW, Smith SD, Usami S, Kimberling WJ. Human connexin 30 (GJB6), a candidate gene for non-syndromic hearing loss: Molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. Genomics 1999; 62(2): 172-176.

7. del Castillio I, Villamar M, Moreno-Pelayo MA, del Catillio FJ, Alvarez A, Telleria D, Menendez I, Moreno F. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002; 346(4): 243-249.

8. Efremov GD, Dimovski A, Efremov DG, Plaseska D, Jankovic L, Petreska L, Sukarova E, Koceva S. Recombinant DNA technology, A Laboratory Mannual. Skopje: ICGEB, MASA, 1992.

9. Storm K, Willocx S, Flothmann K, van Camp G. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method. Hum Mutat 1999; 14(3): 263-266.

10. Stinckens C, Kremer H, Van Wijk E, Hoefsloot LH, Huygen PL, Standaert L, Fryns JP, Cremers CW. Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and Connexin 30 (GJB6) mutations. Ann Otol Rhinol Laryngol 2004; 113(7): 587-593.

11. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. Con nexin 26 mutations in hereditary non-syndromic sensory-neural  fness. Nature 1997; 387(6628): 80-83.

12. Minarik G, Ferak V, Ferakova E, Ficek A, Polakova H, Kadasi L. High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen Physiol Biophys 2003; 22(4): 549-556.

13. Alvarez A, del Castillio I, Villamar M, Aguirre LA, Gonzalez-Neira A, Lopez-Nevot A, Moreno- Pelayo MA, Moreno F. High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (Gypsies) with autosomal recesive non-syndromic hearing loss. Am J Med Genet 2005; 137A(3): 255-258.




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