Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis

Detalhes bibliográficos
Autor(a) principal: Coutinho,Cyntia Arivabeni de Araujo Correia
Data de Publicação: 2013
Outros Autores: Marson,Fernando Augusto de Lima, Ribeiro,Antonio Fernando, Ribeiro,Jose Dirceu, Bertuzzo,Carmen Silvia
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Jornal Brasileiro de Pneumologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132013000500555
Resumo: OBJECTIVE: To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations. METHODS: This was a cross-sectional study involving 70 patients with CF. The mean age of the patients was 12.38 ± 9.00 years, 51.43% were female, and 94.29% were White. Mutation screening was performed with polymerase chain reaction (for F508del), followed by enzymatic digestion (for other mutations). Clinical analysis was performed on the basis of gender, age, ethnicity, pulmonary/gastrointestinal symptoms, and Shwachman-Kulczycki (SK) score. RESULTS: All of the patients showed pulmonary symptoms, and 8 had no gastrointestinal symptoms. On the basis of the SK scores, CF was determined to be mild, moderate, and severe in 22 (42.3%), 17 (32.7%), and 13 (25.0%) of the patients, respectively. There was no association between F508del mutation and disease severity by SK score. Of the 140 alleles analyzed, F508del mutation was identified in 70 (50%). Other mutations (G542X, G551D, R553X, R1162X, and N1303K) were identified in 12 (7.93%) of the alleles studied. In F508del homozygous patients with severe disease, the OR was 0.124 (95% CI: 0.005-0.826). CONCLUSIONS: In 50% of the alleles studied, the molecular diagnosis of CF was confirmed by identifying a single mutation (F508del). If we consider the analysis of the six most common mutations in the Brazilian population (including F508del), the molecular diagnosis was confirmed in 58.57% of the alleles studied.
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spelling Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosisCystic fibrosisCystic fibrosis transmembrane conductance regulatorMutation OBJECTIVE: To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations. METHODS: This was a cross-sectional study involving 70 patients with CF. The mean age of the patients was 12.38 ± 9.00 years, 51.43% were female, and 94.29% were White. Mutation screening was performed with polymerase chain reaction (for F508del), followed by enzymatic digestion (for other mutations). Clinical analysis was performed on the basis of gender, age, ethnicity, pulmonary/gastrointestinal symptoms, and Shwachman-Kulczycki (SK) score. RESULTS: All of the patients showed pulmonary symptoms, and 8 had no gastrointestinal symptoms. On the basis of the SK scores, CF was determined to be mild, moderate, and severe in 22 (42.3%), 17 (32.7%), and 13 (25.0%) of the patients, respectively. There was no association between F508del mutation and disease severity by SK score. Of the 140 alleles analyzed, F508del mutation was identified in 70 (50%). Other mutations (G542X, G551D, R553X, R1162X, and N1303K) were identified in 12 (7.93%) of the alleles studied. In F508del homozygous patients with severe disease, the OR was 0.124 (95% CI: 0.005-0.826). CONCLUSIONS: In 50% of the alleles studied, the molecular diagnosis of CF was confirmed by identifying a single mutation (F508del). If we consider the analysis of the six most common mutations in the Brazilian population (including F508del), the molecular diagnosis was confirmed in 58.57% of the alleles studied. Sociedade Brasileira de Pneumologia e Tisiologia2013-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132013000500555Jornal Brasileiro de Pneumologia v.39 n.5 2013reponame:Jornal Brasileiro de Pneumologia (Online)instname:Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)instacron:SBPT10.1590/S1806-37132013000500005info:eu-repo/semantics/openAccessCoutinho,Cyntia Arivabeni de Araujo CorreiaMarson,Fernando Augusto de LimaRibeiro,Antonio FernandoRibeiro,Jose DirceuBertuzzo,Carmen Silviaeng2013-12-03T00:00:00Zoai:scielo:S1806-37132013000500555Revistahttp://www.jornaldepneumologia.com.br/default.aspONGhttps://old.scielo.br/oai/scielo-oai.php||jbp@jbp.org.br|| jpneumo@jornaldepneumologia.com.br1806-37561806-3713opendoar:2013-12-03T00:00Jornal Brasileiro de Pneumologia (Online) - Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)false
dc.title.none.fl_str_mv Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis
title Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis
spellingShingle Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis
Coutinho,Cyntia Arivabeni de Araujo Correia
Cystic fibrosis
Cystic fibrosis transmembrane conductance regulator
Mutation
title_short Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis
title_full Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis
title_fullStr Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis
title_full_unstemmed Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis
title_sort Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis
author Coutinho,Cyntia Arivabeni de Araujo Correia
author_facet Coutinho,Cyntia Arivabeni de Araujo Correia
Marson,Fernando Augusto de Lima
Ribeiro,Antonio Fernando
Ribeiro,Jose Dirceu
Bertuzzo,Carmen Silvia
author_role author
author2 Marson,Fernando Augusto de Lima
Ribeiro,Antonio Fernando
Ribeiro,Jose Dirceu
Bertuzzo,Carmen Silvia
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Coutinho,Cyntia Arivabeni de Araujo Correia
Marson,Fernando Augusto de Lima
Ribeiro,Antonio Fernando
Ribeiro,Jose Dirceu
Bertuzzo,Carmen Silvia
dc.subject.por.fl_str_mv Cystic fibrosis
Cystic fibrosis transmembrane conductance regulator
Mutation
topic Cystic fibrosis
Cystic fibrosis transmembrane conductance regulator
Mutation
description OBJECTIVE: To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations. METHODS: This was a cross-sectional study involving 70 patients with CF. The mean age of the patients was 12.38 ± 9.00 years, 51.43% were female, and 94.29% were White. Mutation screening was performed with polymerase chain reaction (for F508del), followed by enzymatic digestion (for other mutations). Clinical analysis was performed on the basis of gender, age, ethnicity, pulmonary/gastrointestinal symptoms, and Shwachman-Kulczycki (SK) score. RESULTS: All of the patients showed pulmonary symptoms, and 8 had no gastrointestinal symptoms. On the basis of the SK scores, CF was determined to be mild, moderate, and severe in 22 (42.3%), 17 (32.7%), and 13 (25.0%) of the patients, respectively. There was no association between F508del mutation and disease severity by SK score. Of the 140 alleles analyzed, F508del mutation was identified in 70 (50%). Other mutations (G542X, G551D, R553X, R1162X, and N1303K) were identified in 12 (7.93%) of the alleles studied. In F508del homozygous patients with severe disease, the OR was 0.124 (95% CI: 0.005-0.826). CONCLUSIONS: In 50% of the alleles studied, the molecular diagnosis of CF was confirmed by identifying a single mutation (F508del). If we consider the analysis of the six most common mutations in the Brazilian population (including F508del), the molecular diagnosis was confirmed in 58.57% of the alleles studied.
publishDate 2013
dc.date.none.fl_str_mv 2013-10-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132013000500555
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1806-37132013000500005
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.publisher.none.fl_str_mv Sociedade Brasileira de Pneumologia e Tisiologia
publisher.none.fl_str_mv Sociedade Brasileira de Pneumologia e Tisiologia
dc.source.none.fl_str_mv Jornal Brasileiro de Pneumologia v.39 n.5 2013
reponame:Jornal Brasileiro de Pneumologia (Online)
instname:Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)
instacron:SBPT
instname_str Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)
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reponame_str Jornal Brasileiro de Pneumologia (Online)
collection Jornal Brasileiro de Pneumologia (Online)
repository.name.fl_str_mv Jornal Brasileiro de Pneumologia (Online) - Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)
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