Molecular investigation of pediatric portuguese patients with sensorineural hearing loss
Autor(a) principal: | |
---|---|
Data de Publicação: | 2011 |
Outros Autores: | , , , , |
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. |
id |
RCAP_60ce4f48f3e88b0a1b435e56a1f68497 |
---|---|
oai_identifier_str |
oai:repositorio.insa.pt:10400.18/1056 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
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 |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
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 |
repository.mail.fl_str_mv |
|
_version_ |
1817553311282233344 |