Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients
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 im...
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2005
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| Acceso en línea: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03785955_v207_n1-2_p43_Dalamon http://hdl.handle.net/20.500.12110/paper_03785955_v207_n1-2_p43_Dalamon |
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paper:paper_03785955_v207_n1-2_p43_Dalamon2023-06-08T15:40:24Z Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients 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 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. 2005 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03785955_v207_n1-2_p43_Dalamon http://hdl.handle.net/20.500.12110/paper_03785955_v207_n1-2_p43_Dalamon |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
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 |
| spellingShingle |
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 Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients |
| topic_facet |
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 |
| description |
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. |
| title |
Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients |
| title_short |
Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients |
| title_full |
Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients |
| title_fullStr |
Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients |
| title_full_unstemmed |
Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients |
| title_sort |
prevalence of gjb2 mutations and the del(gjb6-d13s1830) in argentinean non-syndromic deaf patients |
| publishDate |
2005 |
| url |
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03785955_v207_n1-2_p43_Dalamon http://hdl.handle.net/20.500.12110/paper_03785955_v207_n1-2_p43_Dalamon |
| _version_ |
1768541897756770304 |