Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , , |
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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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 |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132013000500555 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132013000500555 |
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 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
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) |
instacron_str |
SBPT |
institution |
SBPT |
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) |
repository.mail.fl_str_mv |
||jbp@jbp.org.br|| jpneumo@jornaldepneumologia.com.br |
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1750318345828171776 |