Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset;Prevalencia de las mutaciones 35delG en el gen GJB2, del (GJB6-D13S1830) en el gen GJB6, Q829X en el gen OTOF y A1555G en el gen del ARNr 12S mitocondrial en sujetos con hipoacusia neurosensorial no sindrómica de inicio congénito o en la infancia

Acta Otorrinolaringologica Espanola

Volumn 56, Issue 10, 2005, Pages 463-468

  Gallo Teran J ^a   Morales Angulo, Carmelo ^b,d   Rodriguez Ballesteros M ^c   Moreno Pelayo, M A ^c   Del Castillo, I ^c   Moreno, F ^c  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^b HOSPITAL SIERRALLANA   (Spain)

^c HOSPITAL RAMÓN Y CAJAL   (Spain)

^d NONE   (Spain)

Author keywords

Connexin; Mitochondrial; Mutation; Non syndromic hearing impairment; Otoferlin

Indexed keywords

AMINOGLYCOSIDE; CONNEXIN 26; CONNEXIN 30; PROTEIN OTOFERLIN; RIBOSOME RNA; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; GAP JUNCTION PROTEIN; GJB6 PROTEIN, HUMAN; MEMBRANE PROTEIN; OTOF PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; MALE; ONSET AGE; PERCEPTION DEAFNESS; SCHOOL CHILD; CHILD; GENETICS; HOMOZYGOTE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; RNA GENE; X CHROMOSOME;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHROMOSOMES, HUMAN, X; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RRNA; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; PEDIGREE; POINT MUTATION;

EID: 33644895115     PISSN: 00016519     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0001-6519(05)78649-0     Document Type: Article

References (34)

1. Cohen MM Jr, Gorlin RJ. Epidemiology, etiology, and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM Jr, eds. Hereditary hearing loss and its syndromes. Oxford monographs on medical genetics. No 28. New York: Oxford University Press, 1995:9-21.
2. Petit C, Levilliers J, Hardelin JP. Molecular genetics of hearing loss. Annu Rev Genet 2001;35:589-646.
3. Van Camp G, Smith RJH. Hereditary Hearing Loss Homepage. World Wide Web URL: http://www.uia.ac.be/dnalab/hhh/.
4. Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. Genetic epidemiological studies of early-onset deafness in the US school-age population. Am J Med Genet 1993; 46: 486-91.
5. Rabionet R, Zelante L, López-Bigas N, D'Agruma L, Melchionda S, Restagno G, et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 2000; 106:40-4.
6. Del Castillo I, Villamar M, Moreno-Pelayo MA, Del Castillo FJ, Alvarez A, Tellería D, et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002;346:243-9.
7. Migliosi V, Modamio-Hoybjor S, Moreno-Pelayo MA, Rodríguez- Ballesteros M, Villamar M, Tellería D, et al. Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. J Med Genet 2002;39:502-6.
8. Estivill X, Govea N, Barceló A, Perelló E, Badenas C, Romero E, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet 1998;62:27-35.
9. Sarduy M, del Castillo I, Villamar M, Romero L, Herraiz C, Hernández FJ, et al. Genetic study of mitochondrially inherited sensorineural hearing impairment in eight large families from Spain and Cuba. En: "Developments in Genetic Hearing Impairment", Stephens D, Read A, Martini A (eds). Whurr Publishers, Londres, 1998. Capítulo 22, páginas 121-5.
10. Goodenough DA, Goliger JA, Paul DL. Connexins, connexons and intercellular communication. Annu Rev Biochem 1996;65:475-502.
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;6:2173-7.
12. del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S, Adina Q, et al. 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 2003;73:1452-8.
13. Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 1999;21:363-9.
14. Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993;4:289-94.
15. Recomendación BIAP -Bureau International d'Audiophonologie-02/1 - Lisboa 1997.
16. Liu X, Xu L. Nonsyndromic hearing loss: an analysis of audiograms. Ann Otol Rhinol Laryngol 1994;103:428-33.
17. Álvarez A, del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Rivera T, et al. Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin-26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients. J Med Genet 2003;40:636-9.
18. Lehtonen MS, Uimonen S, Hassinen IE, Majamaa K. Frequency of mitochondrial DNA point mutations among patients with a familial sensorineural hearing impairment. Eur J Hum Genet 2000;8:315-8.
19. Hutchin TP, Thompson KR, Parker M, Newton V, Bitner-Glindzicz M, Mueller RF. Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment. Med Genet 2001;38:229-31.
20. Torroni A, Cruciani F, Rengo C, Sellito D, Lopez-Bigas N, Rabionet R, et al. The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. Am J Hum Genet 1999;65:1349-58.
21. Oshima T, Kudo T, Ikeda K. Point mutation of the mitochondrial genome in Japanese deaf-mutism. ORL J Otorhinolaryngol Relat Spec 2001;63:329-32.
22. Bykhovskaya Y, Yang H, Taylor K, Hang T, Tun RY, Estivill X, et al. Modifier locus for mitochondrial DNA disease: linkage and linkage desequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. Genet Med 2001;3:177-80.
23. Bacino C, Prezant TR, Bu X, Fournier P, Fischel-Ghodsian N. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics 1995;5:165-72.
24. Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM. Maternally inherited deafness associated with a T1095C mutation in the mDNA. Eur J Hum Genet 2001;9:147-9.
25. Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 2004;74: 139-52
26. Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1999;351:394-8.
27. Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999;353:1298-303.
28. Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, et al. High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet 2000;106:399-405.
29. Adato A, Raskin L, Petit C, Bonne-Tamir B. Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. Eur J Hum Genet 2000;8:437-42.
30. Yasunaga S, Grati M, Chardenoux S, Smith TN, Friedman TB, Lalwani AK, et al. OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. Am J Hum Genet 2000;67:591-600.
31. Houseman MJ, Jackson AP, Al-Gazali LI, Badin RA, Roberts E, Mueller RF. A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterized OTOF long isoforms. J Med Genet 2001;38:e25.
32. Mirghomizadeh F, Pfister M, Apaydin F, Petit C, Kupka S, Pusch CM, et al. Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. Neurobiol Dis 2002;10:157-64.
33. Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, et al. Nonsyndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. J Med Genet 2003;40:45-50.
34. Rodriguez-Ballesteros M, del Castillo FJ, Martín Y, Moreno-Pelayo MA, Morera C, Prieto F, et al. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Hum Mutat 2003;22:451-6.