Molecular investigation of pediatric portuguese patients with sensorineural hearing loss

Detalhes bibliográficos
Autor(a) principal: Nogueira, C.
Data de Publicação: 2011
Outros Autores: Coutinho, M., Pereira, C., Tessa, A., Santorelli, F.M., Vilarinho, L.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/1056
Resumo: The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic) and searched for variations in two frequent genes, GJB2 and GJB6, in the non- syndromic patients. Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNATrp gene (namely, m.5558A>G). We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84). Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL.
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spelling Molecular investigation of pediatric portuguese patients with sensorineural hearing lossSensorineural Hearing LossDoenças GenéticasmtDNAThe understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic) and searched for variations in two frequent genes, GJB2 and GJB6, in the non- syndromic patients. Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNATrp gene (namely, m.5558A>G). We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84). Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL.SAGE-Hindawi Access to ResearchRepositório Científico do Instituto Nacional de SaúdeNogueira, C.Coutinho, M.Pereira, C.Tessa, A.Santorelli, F.M.Vilarinho, L.2012-10-24T16:46:33Z20112011-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/1056engGenet Res Int. 2011;2011:587602. Epub 2011 Sep 252090-3154info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:38:32Zoai:repositorio.insa.pt:10400.18/1056Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:36:14.381355Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Molecular investigation of pediatric portuguese patients with sensorineural hearing loss
title Molecular investigation of pediatric portuguese patients with sensorineural hearing loss
spellingShingle Molecular investigation of pediatric portuguese patients with sensorineural hearing loss
Nogueira, C.
Sensorineural Hearing Loss
Doenças Genéticas
mtDNA
title_short Molecular investigation of pediatric portuguese patients with sensorineural hearing loss
title_full Molecular investigation of pediatric portuguese patients with sensorineural hearing loss
title_fullStr Molecular investigation of pediatric portuguese patients with sensorineural hearing loss
title_full_unstemmed Molecular investigation of pediatric portuguese patients with sensorineural hearing loss
title_sort Molecular investigation of pediatric portuguese patients with sensorineural hearing loss
author Nogueira, C.
author_facet Nogueira, C.
Coutinho, M.
Pereira, C.
Tessa, A.
Santorelli, F.M.
Vilarinho, L.
author_role author
author2 Coutinho, M.
Pereira, C.
Tessa, A.
Santorelli, F.M.
Vilarinho, L.
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Nogueira, C.
Coutinho, M.
Pereira, C.
Tessa, A.
Santorelli, F.M.
Vilarinho, L.
dc.subject.por.fl_str_mv Sensorineural Hearing Loss
Doenças Genéticas
mtDNA
topic Sensorineural Hearing Loss
Doenças Genéticas
mtDNA
description The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic) and searched for variations in two frequent genes, GJB2 and GJB6, in the non- syndromic patients. Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNATrp gene (namely, m.5558A>G). We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84). Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL.
publishDate 2011
dc.date.none.fl_str_mv 2011
2011-01-01T00:00:00Z
2012-10-24T16:46:33Z
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://hdl.handle.net/10400.18/1056
url http://hdl.handle.net/10400.18/1056
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Genet Res Int. 2011;2011:587602. Epub 2011 Sep 25
2090-3154
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv SAGE-Hindawi Access to Research
publisher.none.fl_str_mv SAGE-Hindawi Access to Research
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
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instacron_str RCAAP
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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