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Abstract:

Genetically caused congenital deafness is a common trait affecting 1 in 2000 children and it is predominantly inherited in an autosomal recessive fashion. Several mutations in the GJB2 gene and a deletion of 342 kb in GJB6 (delGJB6-D13S1830) have been identified worldwide in patients with hearing impairment. The aim of this study was to determine the prevalence of these mutations in Argentina. Non-syndromic 46 probands (17 familial and 29 sporadic cases) were genetically evaluated. Mutations in GJB2 and/or delGJB6-D13S1830 were found in 19 patients, accounting for 41.3% of the sample. Of the 46 patients investigated in this study, 12 (26.1%) were diagnosed to carry sequence variations in both alleles; all but one, were considered causative for hearing impairment in those patients. In 7 out of 46 patients (15.2%) only one mutant allele was detected. Of their 38 chromosomes, 71% resulted with mutations in the GJB2 gene and 11% in GJB6. The most frequent mutation in GJB2 (24%) was c.35delG (11% homozygous and 13% heterozygous and compound heterozygous). In addition, 11 sequence variations different from c.35delG, were identified in the coding region of the GJB2 gene: T8M, V27I, M34T, E47X, R75W, W77R, I82M, L90P, E129K, V153I, M163V. The delGJB6-D13S1830 mutation was found in 4 patients (9%), 3 of them associated with GJB2 mutations, resulting in compound heterozygous for the DFNB1 locus. The present study demonstrates that mutations in the GJB2 gene and the delGJB6-D13S1830 are prevalent in the Argentinean population. © 2005 Elsevier B.V. All rights reserved.

Registro:

Documento: Artículo
Título:Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients
Autor:Dalamón, V.; Béhèran, A.; Diamante, F.; Pallares, N.; Diamante, V.; Elgoyhen, A.B.
Filiación:Instituto de Investigaciones en Ingeniería Genética Y Biología Molecular, Consejo Nacional de Investigaciones Científicas Y Técnicas, Universidad de Buenos Aires, Vuelta de Obligado 2490, 1428 Buenos Aires, Argentina
Centro de Implantes Cocleares Prof. Dr. Vicente Diamante, Pasteur 740, 1028 Buenos Aires, Argentina
Palabras clave:c.35delG mutation; Connexin 26; Connexin 30; Deafness; delGJB6-D13S1830; GJB2; GJB6; connexin 26; connexin 30; adolescent; adult; allele; Argentina; article; child; chromosome analysis; clinical article; congenital deafness; controlled study; gene deletion; gene frequency; gene locus; gene mutation; genetic epidemiology; genetic variability; hearing impairment; heterozygote; homozygote; human; infant; mutational analysis; nucleotide sequence; prevalence; priority journal; Adolescent; Adult; Alleles; Argentina; Base Sequence; Child; Child, Preschool; Connexins; DNA; Female; Gene Frequency; Genes, Recessive; Hearing Loss, Sensorineural; Humans; Infant; Male; Middle Aged; Models, Molecular; Mutation; Sequence Deletion
Año:2005
Volumen:207
Número:1-2
Página de inicio:43
Página de fin:49
DOI: http://dx.doi.org/10.1016/j.heares.2005.04.012
Título revista:Hearing Research
Título revista abreviado:Hear. Res.
ISSN:03785955
CODEN:HERED
CAS:connexin 30, 247918-44-1; connexin 26, 127120-53-0; Connexins; DNA, 9007-49-2; GJB6 protein, human
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03785955_v207_n1-2_p43_Dalamon

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Citas:

---------- APA ----------
Dalamón, V., Béhèran, A., Diamante, F., Pallares, N., Diamante, V. & Elgoyhen, A.B. (2005) . Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients. Hearing Research, 207(1-2), 43-49.
http://dx.doi.org/10.1016/j.heares.2005.04.012
---------- CHICAGO ----------
Dalamón, V., Béhèran, A., Diamante, F., Pallares, N., Diamante, V., Elgoyhen, A.B. "Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients" . Hearing Research 207, no. 1-2 (2005) : 43-49.
http://dx.doi.org/10.1016/j.heares.2005.04.012
---------- MLA ----------
Dalamón, V., Béhèran, A., Diamante, F., Pallares, N., Diamante, V., Elgoyhen, A.B. "Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients" . Hearing Research, vol. 207, no. 1-2, 2005, pp. 43-49.
http://dx.doi.org/10.1016/j.heares.2005.04.012
---------- VANCOUVER ----------
Dalamón, V., Béhèran, A., Diamante, F., Pallares, N., Diamante, V., Elgoyhen, A.B. Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients. Hear. Res. 2005;207(1-2):43-49.
http://dx.doi.org/10.1016/j.heares.2005.04.012