Hearing Loss and M.1555a>G Mitochondrial Mutation

Authors

  • Guilherme Machado de Carvalho Machado de Carvalho

Downloads

How to Cite

Hearing Loss and M.1555a>G Mitochondrial Mutation. (2015). Global Journal of Medical Research, 15(12), 23-28. https://medicalresearchjournal.org/index.php/GJMR/article/view/

References

Amiel Dror, Karen Avraham (2009) Hearing loss: mechanisms revealed by genetics and cell biology Annu Rev Genet. 43(1), 411-437. https://doi.org/10.1146/annurev-genet-102108-134135

Nele Hilgert, Richard Smith, Guy Van Camp (2009) Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res. 681(2-3), 189-196. https://doi.org/10.1016/j.mrrev.2008.08.002

Haris Kokotas, Maria Grigoriadou, George Korres, Elisabeth Ferekidou, Eleftheria Papadopoulou, Polyxene Neou, Aglaia Giannoulia-Karantana, Dimitrios Kandiloros, Stavros Korres, Michael Petersen (2009) The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss Biochem Biophys Res Commun. 390(3), 755-757. https://doi.org/10.1016/j.bbrc.2009.10.044

Prezant TR, Agapian JV, Bohlman MC, Bu X, Öztas S (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and nonsyndromic deafness. 4(3), 289-294. https://doi.org/10.1038/ng0793-289

(2013) MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org

Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR (1997) Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 6(12), 2173-2177. https://doi.org/10.1093/hmg/6.12.2173

D. Kelsell, J. Dunlop, H. Stevens, N. Lench, J. Liang, G. Parry, R. Mueller, I. Leigh (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness Nature. 387(6628), 80-83. https://doi.org/10.1038/387080a0

Del I, Moreno-Pelayo MA, Del FJ, Brownstein Z, Marlin S, Adina Q (2003) Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study Am J Hum Genet. 73(6), 1452-1458. https://doi.org/10.1086/380205

Del FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de CA (2005) 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. 42(7), 588-594. https://doi.org/10.1136/jmg.2004.028324

Mingroni-Netto RC, Abreu-Silva RS, Braga MCC, Lezirovitz K, Della-Rosa VA (2001) Mitochondrial mutation A1555G (12S rRNA) and connexin 26 35delG mutation are frequent causes of deafness in Brazil. 69, suppl A2124.

Pupo AC, Pirana S, Spinelli M, Lezirovitz K, Mingroni-Netto RC (2008) Study of a Brazilian family presenting non-syndromic hearing loss with mitochondrial inheritance Braz J Otorhinolaryngol. 74(5), 786-789. https://doi.org/10.1016/s1808-8694(15)31392-6

King PJ, Ouyang X, Du L, Yan D, Angeli SI (2012) Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations Otolaryngol Head Neck Surg. 147(5), 932-936. https://doi.org/10.1177/0194599812453553

L. Phillips, M. Bitner-Glindzicz, N. Lench, K. Steel, C. Langford, S. Dawson (2013) The future role of genetic screening to detect newborns at risk of childhoodonset hearing loss International J Audiol. 52, 124-133.

Wei Q, Wang S, Yao J, Lu Y, Chen Z, Xing G (2013) Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China. 4(11), 163.

Wu CC, Chiu YH, Chen PJ, Hsu CJ (2007) Prevalence and Clinical Features of the Mitochondrial m.1555A>G Mutation in Taiwanese Patients with Idiopathic Sensorineural Hearing Loss and Association of Haplogroup F with Low Penetrance in Three Families. 28(3), 332-342.

Chen T, Liu Q, Jiang L, Liu C, Ou Q (2013) Mitochondrial COX2 G7598A Mutation May Have a Modifying Role in the Phenotypic Manifestation of Aminoglycoside Antibiotic-Induced Deafness Associated with 12S rRNA A1555G Mutation in a Han Chinese Pedigree. 17(2), 122-30.

C. Angulo, J. Gallo-Teran, B. Senaris, A. Fontalva, R. Gonzalez-Aguado, J. Fernandez-Luna (2011) Prevalence of the A1555G MTDNA mutation in sporadic hearing-impaired patients without known history of aminoglycosides treatment Acta Otorrinolaringol Esp. 62(2), 83-86.

G. Paludetti, G. Conti, Di Nardo, W., De Corso, E. Rolesi, R. Picciotti, P. (2012) Infant hearing loss: from diagnosis to therapy. 32, 347-70.

Scorpecci Marsella P, Pacifico C (2012) Pediatric BAHA in Italy: the "Bambino Gesù" Children's Hospital's experience. 269, 467-474.

Barbara M, Manni V, Monini S (2009) Totally implantable middle-ear device for rehabilitation os sensorineural hearing loss: preliminary experience with the Esteem, Envoy. 129, 429-32.

Svirsky MA, Teoh SW, Neuburger H (2004) Development of language and speech perception in congenitally, profoundly deaf children as a function of age at cochlear implantation. 9, 224-33.

Parker MA (2011) Biotechnology in the Treatment of Sensorineural Hearing Loss:Foundations and Future of Hair Cell Regeneration. 54(6), 1709-31.

Published

2015-04-10

How to Cite

Hearing Loss and M.1555a>G Mitochondrial Mutation. (2015). Global Journal of Medical Research, 15(12), 23-28. https://medicalresearchjournal.org/index.php/GJMR/article/view/