Screening of connexin 26 in nonsyndromic hearing loss
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1055/s-0034-1373783 http://hdl.handle.net/11449/227904 |
Resumo: | Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11-22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important. The viability and benefits of screening for mutations in the connexin 26 gene are now beginning to change the diagnostic evaluation and identification of the etiology of hearing loss. Objective To investigate the occurrence of the 35delG mutation in patients with nonsyndromic sensorineural hearing loss and their first degree relatives. Methods This transversal study included 72 patients from the local hospital. The patients were divided into three groups: group A, sensorineural hearing loss (n-=-58); group B, first-degree relatives of group A with sensorineural hearing loss (n-=-09); and group C, first-degree relatives of patients from group A without hearing loss (n-=-05). All patients had audiological evaluation and genetic testing of the 35delG mutation. Results The 35delG mutation was found in four heterozygous mutations (three of them found in the same family). The other heterozygous mutation was found in a female patient with bilateral, moderate, prelingual, sensorineural hearing loss. A single homozygous mutation was found in a male patient, with severe sensorineural hearing loss in his right ear and profound hearing loss in the left ear. Conclusions The 35delG mutation was found in 7% of the cases. The test is easy to perform and inexpensive, but it is necessary to investigate other genes related to hearing loss. |
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Repositório Institucional da UNESP |
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Screening of connexin 26 in nonsyndromic hearing lossacoustic stimulationgeneticshearing lossIntroduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11-22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important. The viability and benefits of screening for mutations in the connexin 26 gene are now beginning to change the diagnostic evaluation and identification of the etiology of hearing loss. Objective To investigate the occurrence of the 35delG mutation in patients with nonsyndromic sensorineural hearing loss and their first degree relatives. Methods This transversal study included 72 patients from the local hospital. The patients were divided into three groups: group A, sensorineural hearing loss (n-=-58); group B, first-degree relatives of group A with sensorineural hearing loss (n-=-09); and group C, first-degree relatives of patients from group A without hearing loss (n-=-05). All patients had audiological evaluation and genetic testing of the 35delG mutation. Results The 35delG mutation was found in four heterozygous mutations (three of them found in the same family). The other heterozygous mutation was found in a female patient with bilateral, moderate, prelingual, sensorineural hearing loss. A single homozygous mutation was found in a male patient, with severe sensorineural hearing loss in his right ear and profound hearing loss in the left ear. Conclusions The 35delG mutation was found in 7% of the cases. The test is easy to perform and inexpensive, but it is necessary to investigate other genes related to hearing loss.ENT/Ophtamology Department CCP Faculdade de Medicina de BotucatuENT/Ophtamology Department CCP Faculdade de Medicina de BotucatuUniversidade Estadual Paulista (UNESP)Moreira, Danielle [UNESP]Silva, Daniela Da [UNESP]Lopez, Priscila [UNESP]Mantovani, Jair Cortez [UNESP]2022-04-29T07:25:46Z2022-04-29T07:25:46Z2013-11-05info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article30-33http://dx.doi.org/10.1055/s-0034-1373783International Archives of Otorhinolaryngology, v. 19, n. 1, p. 30-33, 2013.1809-48641809-9777http://hdl.handle.net/11449/22790410.1055/s-0034-13737832-s2.0-84920144507Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengInternational Archives of Otorhinolaryngologyinfo:eu-repo/semantics/openAccess2022-04-29T07:25:46Zoai:repositorio.unesp.br:11449/227904Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462022-04-29T07:25:46Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Screening of connexin 26 in nonsyndromic hearing loss |
title |
Screening of connexin 26 in nonsyndromic hearing loss |
spellingShingle |
Screening of connexin 26 in nonsyndromic hearing loss Moreira, Danielle [UNESP] acoustic stimulation genetics hearing loss |
title_short |
Screening of connexin 26 in nonsyndromic hearing loss |
title_full |
Screening of connexin 26 in nonsyndromic hearing loss |
title_fullStr |
Screening of connexin 26 in nonsyndromic hearing loss |
title_full_unstemmed |
Screening of connexin 26 in nonsyndromic hearing loss |
title_sort |
Screening of connexin 26 in nonsyndromic hearing loss |
author |
Moreira, Danielle [UNESP] |
author_facet |
Moreira, Danielle [UNESP] Silva, Daniela Da [UNESP] Lopez, Priscila [UNESP] Mantovani, Jair Cortez [UNESP] |
author_role |
author |
author2 |
Silva, Daniela Da [UNESP] Lopez, Priscila [UNESP] Mantovani, Jair Cortez [UNESP] |
author2_role |
author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (UNESP) |
dc.contributor.author.fl_str_mv |
Moreira, Danielle [UNESP] Silva, Daniela Da [UNESP] Lopez, Priscila [UNESP] Mantovani, Jair Cortez [UNESP] |
dc.subject.por.fl_str_mv |
acoustic stimulation genetics hearing loss |
topic |
acoustic stimulation genetics hearing loss |
description |
Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11-22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important. The viability and benefits of screening for mutations in the connexin 26 gene are now beginning to change the diagnostic evaluation and identification of the etiology of hearing loss. Objective To investigate the occurrence of the 35delG mutation in patients with nonsyndromic sensorineural hearing loss and their first degree relatives. Methods This transversal study included 72 patients from the local hospital. The patients were divided into three groups: group A, sensorineural hearing loss (n-=-58); group B, first-degree relatives of group A with sensorineural hearing loss (n-=-09); and group C, first-degree relatives of patients from group A without hearing loss (n-=-05). All patients had audiological evaluation and genetic testing of the 35delG mutation. Results The 35delG mutation was found in four heterozygous mutations (three of them found in the same family). The other heterozygous mutation was found in a female patient with bilateral, moderate, prelingual, sensorineural hearing loss. A single homozygous mutation was found in a male patient, with severe sensorineural hearing loss in his right ear and profound hearing loss in the left ear. Conclusions The 35delG mutation was found in 7% of the cases. The test is easy to perform and inexpensive, but it is necessary to investigate other genes related to hearing loss. |
publishDate |
2013 |
dc.date.none.fl_str_mv |
2013-11-05 2022-04-29T07:25:46Z 2022-04-29T07:25:46Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1055/s-0034-1373783 International Archives of Otorhinolaryngology, v. 19, n. 1, p. 30-33, 2013. 1809-4864 1809-9777 http://hdl.handle.net/11449/227904 10.1055/s-0034-1373783 2-s2.0-84920144507 |
url |
http://dx.doi.org/10.1055/s-0034-1373783 http://hdl.handle.net/11449/227904 |
identifier_str_mv |
International Archives of Otorhinolaryngology, v. 19, n. 1, p. 30-33, 2013. 1809-4864 1809-9777 10.1055/s-0034-1373783 2-s2.0-84920144507 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
International Archives of Otorhinolaryngology |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
30-33 |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1803046274417557504 |