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Type: Artigo de periódico
Title: Genetic Investigation Of Non-syndromic Hereditary Deafness [a Investigação Genética Na Surdez Hereditária Não-sindrômica]
Author: Pfeilsticker L.N.
Stole G.
Sartorato E.L.
Delfino D.
Guerra A.T.M.
Abstract: The precise diagnosis of hearing loss can be clarified by genetic investigation. Non-syndromic hearing loss is responsible for 70% of all genetic causes of hearing loss. More than 100 genes are potentially involved in non-syndromic hearing loss. A specific mutation (35delG) on the GJB2 gene that codifies Conexin 26 protein is the most common finding in non-syndromic hereditary hearing loss. Aim: In this study the presence of mutations 35delG, A1555G/12SeRNA and A7445G/tRNASer (UCN) where investigated for patients with hearing loss of unknown cause. Study design: Clinical study with transversal cohort. Material and method: 75 outpatients from the Department of Otolaryngology and Head and Neck Surgery of the University of Campinas-UNICAMP were evaluated from July to December of 2000. A total of six mutations were found, four 35delG/GJB2, one A7445G/ tRNASer (UCN) and W172X/GJB2, a mutation not yet described in previous literature. Conclusion: The investigation of mutations associated with hearing loss can be carried out easily, elucidates the etiology and allows genetic counseling of the family.
Rights: aberto
Identifier DOI: 
Date Issue: 2004
Appears in Collections:Unicamp - Artigos e Outros Documentos

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