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Type: Artigo de periódico
Title: Silence Genes: Clinical Complexity Of Genetic Deafness
Author: Sartorato E.L.
Maciel Guerra A.T.
Abstract: Deafness is one of the most common sensory defects. Clinically significant hearing loss may affects 2-7 in 1,000 infants. In developed countries about 50% of the cases of isolated deafness have a genetic origin. In Brazil, the majority of the cases of hearing loss are due to environmental factors. Most of the inherited cases are non-syndromic, and approximately 80% of the genes are autosomal recessive, 18% autosomal dominant, and 2% X-linked or mitochondrial inherited. Recent years have seen tremendous progress localizing and cloning genes associated with inherited hearing loss, the "silence genes". Mutations in connexin 26 gene (GJB2 - Cx26) lead to hearing impairment in most populations all over the countries. This gene is responsible for approximately 80% of the non-syndromic recessive deafness. About 70% of the people with mutations in GJB2 gene have one particular mutation, 35delG, with a carrier frequency as high as 3%. On the other hand, the involvement of GJB2 gene in deafness with autosomal dominant pattern is also proposed. As a consequence, and also because of the feasibility and benefit of screening for Cx26 mutation, this test is quickly going to become an important public health issue. However, clinicians treating deaf children must be aware of these diagnostic pitfalls and be very careful in the information they provide to the families because some of the patients only have a mutation on one allele. The complexity of genetic deafness, and sometimes the interpretation of the results must be discussed to help genetic counseling in deaf individuals that carry mutations in the GJB2 gene.
Rights: aberto
Identifier DOI: 
Date Issue: 2002
Appears in Collections:Unicamp - Artigos e Outros Documentos

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