The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition
Descripción del Articulo
CF is an autosomal recessive disease, requiring mutations to be present in both alleles in the CF transmembrane conductance regulatory gene (CFTR). The c.3274T> C (p.Tyr1092His) mutation is not registered in the “CFTR2 project” database, but it is registered in The Human Gene Mutation Databas...
| Autores: | , |
|---|---|
| Formato: | artículo |
| Fecha de Publicación: | 2021 |
| Institución: | Universidad Nacional Hermilio Valdizan |
| Repositorio: | Revistas - Universidad Nacional Hermilio Valdizán |
| Lenguaje: | inglés |
| OAI Identifier: | oai:revistas.unheval.edu.pe:article/1008 |
| Enlace del recurso: | http://revistas.unheval.edu.pe/index.php/repis/article/view/1008 |
| Nivel de acceso: | acceso abierto |
| Materia: | fibrosis quistica bronquiectasias mutacion c.3274T>C cystic fibrosis bronchiectasis C.3274T> C mutation |
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The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare conditionThe c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare conditionPecho-Silva, SamuelNavarro-Solsol, Ana C.fibrosis quisticabronquiectasiasmutacion c.3274T>Ccystic fibrosisbronchiectasisC.3274T> C mutationCF is an autosomal recessive disease, requiring mutations to be present in both alleles in the CF transmembrane conductance regulatory gene (CFTR). The c.3274T> C (p.Tyr1092His) mutation is not registered in the “CFTR2 project” database, but it is registered in The Human Gene Mutation Database. Neither are the two DNAAF4 c.1177C> T (p.Leu393Phe) and DNAAF5 c.1195G> A (p.Glu399Lys) mutations found in the "CFTR Project”, and their clinical consequences are currently uncertain. Here, we report the case of a Peruvian woman presenting this mutation, bronchiectasis and loss of lung function and provide a review of the literature.La FQ es una enfermedad autosómica recesiva que requiere la presencia de mutaciones en ambos alelos del gen regulador de la conductancia transmembrana de la FQ (CFTR). La mutación c.3274T> C (p.Tyr1092His) no está registrada en la base de datos del “proyecto CFTR2”, pero está registrada en la base de datos de mutaciones de genes humanos. Ademas otras dos mutaciones DNAAF4 c.1177C> T (p.Leu393Phe) y DNAAF5 c.1195G> A (p.Glu399Lys) encontradas en el "Proyecto CFTR", son actualmente inciertas en sus consecuencias clínicas. A continuación, presentamos el caso de una mujer peruana que presenta esta mutación, bronquiectasias y pérdida de función pulmonar y se proporciona una revisión de la literatura.Universidad Nacional Hermilio Valdizán2021-04-09info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdftext/htmlhttp://revistas.unheval.edu.pe/index.php/repis/article/view/100810.35839/repis.5.2.1008Peruvian Journal of Health Research; Vol. 5 No. 2 (2021); 132-135Revista Peruana de Investigación en Salud; Vol. 5 Núm. 2 (2021); 132-135Revista Peruana de Investigación en Salud; v. 5 n. 2 (2021); 132-1352616-6097reponame:Revistas - Universidad Nacional Hermilio Valdizáninstname:Universidad Nacional Hermilio Valdizaninstacron:UNHEVALenghttp://revistas.unheval.edu.pe/index.php/repis/article/view/1008/871http://revistas.unheval.edu.pe/index.php/repis/article/view/1008/980Derechos de autor 2021 Samuel Pecho-Silva, Ana C. Navarro-Solsolinfo:eu-repo/semantics/openAccessoai:revistas.unheval.edu.pe:article/10082021-04-14T02:02:11Z |
| dc.title.none.fl_str_mv |
The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition |
| title |
The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition |
| spellingShingle |
The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition Pecho-Silva, Samuel fibrosis quistica bronquiectasias mutacion c.3274T>C cystic fibrosis bronchiectasis C.3274T> C mutation |
| title_short |
The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition |
| title_full |
The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition |
| title_fullStr |
The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition |
| title_full_unstemmed |
The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition |
| title_sort |
The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition |
| dc.creator.none.fl_str_mv |
Pecho-Silva, Samuel Navarro-Solsol, Ana C. |
| author |
Pecho-Silva, Samuel |
| author_facet |
Pecho-Silva, Samuel Navarro-Solsol, Ana C. |
| author_role |
author |
| author2 |
Navarro-Solsol, Ana C. |
| author2_role |
author |
| dc.subject.none.fl_str_mv |
fibrosis quistica bronquiectasias mutacion c.3274T>C cystic fibrosis bronchiectasis C.3274T> C mutation |
| topic |
fibrosis quistica bronquiectasias mutacion c.3274T>C cystic fibrosis bronchiectasis C.3274T> C mutation |
| description |
CF is an autosomal recessive disease, requiring mutations to be present in both alleles in the CF transmembrane conductance regulatory gene (CFTR). The c.3274T> C (p.Tyr1092His) mutation is not registered in the “CFTR2 project” database, but it is registered in The Human Gene Mutation Database. Neither are the two DNAAF4 c.1177C> T (p.Leu393Phe) and DNAAF5 c.1195G> A (p.Glu399Lys) mutations found in the "CFTR Project”, and their clinical consequences are currently uncertain. Here, we report the case of a Peruvian woman presenting this mutation, bronchiectasis and loss of lung function and provide a review of the literature. |
| publishDate |
2021 |
| dc.date.none.fl_str_mv |
2021-04-09 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
http://revistas.unheval.edu.pe/index.php/repis/article/view/1008 10.35839/repis.5.2.1008 |
| url |
http://revistas.unheval.edu.pe/index.php/repis/article/view/1008 |
| identifier_str_mv |
10.35839/repis.5.2.1008 |
| dc.language.none.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
http://revistas.unheval.edu.pe/index.php/repis/article/view/1008/871 http://revistas.unheval.edu.pe/index.php/repis/article/view/1008/980 |
| dc.rights.none.fl_str_mv |
Derechos de autor 2021 Samuel Pecho-Silva, Ana C. Navarro-Solsol info:eu-repo/semantics/openAccess |
| rights_invalid_str_mv |
Derechos de autor 2021 Samuel Pecho-Silva, Ana C. Navarro-Solsol |
| eu_rights_str_mv |
openAccess |
| dc.format.none.fl_str_mv |
application/pdf text/html |
| dc.publisher.none.fl_str_mv |
Universidad Nacional Hermilio Valdizán |
| publisher.none.fl_str_mv |
Universidad Nacional Hermilio Valdizán |
| dc.source.none.fl_str_mv |
Peruvian Journal of Health Research; Vol. 5 No. 2 (2021); 132-135 Revista Peruana de Investigación en Salud; Vol. 5 Núm. 2 (2021); 132-135 Revista Peruana de Investigación en Salud; v. 5 n. 2 (2021); 132-135 2616-6097 reponame:Revistas - Universidad Nacional Hermilio Valdizán instname:Universidad Nacional Hermilio Valdizan instacron:UNHEVAL |
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Universidad Nacional Hermilio Valdizan |
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UNHEVAL |
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UNHEVAL |
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Revistas - Universidad Nacional Hermilio Valdizán |
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Revistas - Universidad Nacional Hermilio Valdizán |
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12.81995 |
Nota importante:
La información contenida en este registro es de entera responsabilidad de la institución que gestiona el repositorio institucional donde esta contenido este documento o set de datos. El CONCYTEC no se hace responsable por los contenidos (publicaciones y/o datos) accesibles a través del Repositorio Nacional Digital de Ciencia, Tecnología e Innovación de Acceso Abierto (ALICIA).
La información contenida en este registro es de entera responsabilidad de la institución que gestiona el repositorio institucional donde esta contenido este documento o set de datos. El CONCYTEC no se hace responsable por los contenidos (publicaciones y/o datos) accesibles a través del Repositorio Nacional Digital de Ciencia, Tecnología e Innovación de Acceso Abierto (ALICIA).
