Source:http://linkedlifedata.com/resource/pubmed/id/15964725
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1-2
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| pubmed:dateCreated |
2005-9-19
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| pubmed:abstractText |
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.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Sep
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| pubmed:issn |
0378-5955
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
207
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
43-9
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:15964725-Adolescent,
pubmed-meshheading:15964725-Adult,
pubmed-meshheading:15964725-Alleles,
pubmed-meshheading:15964725-Argentina,
pubmed-meshheading:15964725-Base Sequence,
pubmed-meshheading:15964725-Child,
pubmed-meshheading:15964725-Child, Preschool,
pubmed-meshheading:15964725-Connexins,
pubmed-meshheading:15964725-DNA,
pubmed-meshheading:15964725-Female,
pubmed-meshheading:15964725-Gene Frequency,
pubmed-meshheading:15964725-Genes, Recessive,
pubmed-meshheading:15964725-Hearing Loss, Sensorineural,
pubmed-meshheading:15964725-Humans,
pubmed-meshheading:15964725-Infant,
pubmed-meshheading:15964725-Male,
pubmed-meshheading:15964725-Middle Aged,
pubmed-meshheading:15964725-Models, Molecular,
pubmed-meshheading:15964725-Mutation,
pubmed-meshheading:15964725-Sequence Deletion
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| pubmed:year |
2005
|
| pubmed:articleTitle |
Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.
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| pubmed:affiliation |
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. dalamon@dna.uba.ar
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|