Letter to the Editor: Detection of the GJB2 gene mutations in two children with hearing impairment

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1. Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, et al. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res. 2009 Mar-Jun;681(2-3):189-96. DOI: 10.1016/j.mrrev.2008.08.002

2. Mahdieh N, Rabbani B, Wiley S, Akbari MT, Zeinali S. Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations. J Hum Genet. 2010 Oct;55(10):639-48 DOI: 10.1038/jhg.2010.96

3. Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, et al. A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet. 1994 Jan;6(1):24-8. DOI: 10.1038/ng0194-24

4. Kokotas H, Grigoriadou M, Villamar M, Giannoulia-Karantana A, del Castillo I, Petersen MB. Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history? Genet Test Mol Biomarkers. 2010 Apr; 14(2):183-7. DOI: 10.1089/gtmb.2009.0146

5. Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD, et al. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet. 2001 Aug;38(8):515-8. DOI: 10.1136/jmg.38.8.515

6. Del Castillo FJ, Rodrigues-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, 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 Jul;42(7):588-94. DOI: 10.1136/jmg.2004.028324

7. Dragomir C, Stan A, Stefanescu DT, Savu L, Severin E. Prenatal screening for the 35delG GJB2, del (GJB6-D13S1830), and del (GJB6-D13S1854) mutations in the Romanian population. Genet Test Mol Biomarkers. 2011 Nov;15(11):749-53. DOI: 10.1089/gtmb.2011.0048

8. Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive non-syndromic hearing loss. Hum Mutat. 1998;11(5):487-94. DOI: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8 DOI: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.3.CO;2-#

9. Mkaouar-Rebai E, Tlili A, Masmoudi S, Belguith N, Charfeddine I, Mnif M, et al. Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases. Biochem Biophys Res Commun. 2007 May;355(4):1031-7. DOI: 10.1016/j.bbrc.2007.02.083

10. Ferraris A, Rappaport E, Santacroce R, Pollak E, Krantz I, Toth S, et al. Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss. Hum Mutat. 2002 Oct;20(4):312-20. DOI: 10.1002/humu.10127

11. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet. 1997 Nov;6(12):2173-7. DOI: 10.1093/hmg/6.12.2173

12. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997 May; 387(6628):80-3. DOI: 10.1038/387080a0

13. Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, et al. Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet. 2002 Mar;110(3):284-9. DOI: 10.1007/s00439-001-0674-2

14. Minarik G, Tretiarova D, Szemes T. Prevalence of DFNB1 mutations in Slovak population with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol. 2012 Mar;76(3):400-3. DOI: 10.1016/j. ijporl.2011.12.020

15. Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, Pandya A. Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear. 2006 Dec;27(6):732-41. DOI: 10.1097/01.aud.0000240492.78561.d3

Revista Romana de Medicina de Laborator

Romanian Journal of Laboratory Medicine

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