Three novel mutations in the CFTR gene identified in Galician patients
We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. In the other two cases, both heterozygous for novel mutations combined with the F508del m...
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| Published in | Journal of cystic fibrosis Vol. 7; no. 6; pp. 520 - 522 |
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| Main Authors | , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Netherlands
Elsevier B.V
01.11.2008
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1569-1993 1873-5010 1873-5010 |
| DOI | 10.1016/j.jcf.2008.05.009 |
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| Abstract | We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V. |
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| AbstractList | We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V.We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V. We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V. Abstract We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V. |
| Author | Colón, C. Sirvent, J. Carracedo, A. Barros, F. Solar, A. Barros-Casas, D. Barros-Tizón, J.C. Rana-Díez, P. Alonso-Fernández, J.R. |
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| Cites_doi | 10.1016/j.jcf.2005.05.006 10.1097/01.GIM.0000139506.11694.7C 10.1016/S0140-6736(03)13368-5 10.1146/annurev.genom.6.080604.162146 10.1093/bioinformatics/bti486 |
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| Copyright | 2008 European Cystic Fibrosis Society. European Cystic Fibrosis Society. |
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| References | Slieker, Sanders, Rijkers, Ruven, van der Ent (bib2) 2005; 4 Human Genome Mutation Database (Biobase) Pasquet MC, Baudis M, Creveaux I, Kitzis A. Cystic Fibrosis Mutation Database Anguis A, Stasi M, Furbetta M. Cystic Fibrosis Mutation Database Accesion date: 18/03/2008. Stone, Cooper, Sidow (bib8) 2005; 6 Ferrer-Costa, Gelpi, Zamakola, Parraga, de la Cruz, Orozco (bib9) 2005; 21 Watson, Cutting, Desnick, Driscoll, Klinger, Mennuti (bib10) 2004; 6 McKone, Emerson, Edwards, Aitken (bib3) 2003; 361 10.1016/j.jcf.2008.05.009_bib1 Slieker (10.1016/j.jcf.2008.05.009_bib2) 2005; 4 Stone (10.1016/j.jcf.2008.05.009_bib8) 2005; 6 Ferrer-Costa (10.1016/j.jcf.2008.05.009_bib9) 2005; 21 10.1016/j.jcf.2008.05.009_bib7 McKone (10.1016/j.jcf.2008.05.009_bib3) 2003; 361 10.1016/j.jcf.2008.05.009_bib6 10.1016/j.jcf.2008.05.009_bib5 10.1016/j.jcf.2008.05.009_bib4 Watson (10.1016/j.jcf.2008.05.009_bib10) 2004; 6 |
| References_xml | – reference: . Accesion date: 18/03/2008. – reference: Human Genome Mutation Database (Biobase): – reference: Anguis A, Stasi M, Furbetta M. Cystic Fibrosis Mutation Database, – volume: 6 start-page: 387 year: 2004 end-page: 391 ident: bib10 article-title: Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel publication-title: Genet Med – volume: 4 start-page: 7 year: 2005 end-page: 13 ident: bib2 article-title: Disease modifying genes in cystic fibrosis publication-title: J Cyst Fibros – volume: 361 start-page: 1671 year: 2003 end-page: 1676 ident: bib3 article-title: Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study publication-title: Lancet – volume: 21 start-page: 3176 year: 2005 end-page: 3178 ident: bib9 article-title: PMUT: a web-based tool for the annotation of pathological mutations on proteins publication-title: Bioinformatics – volume: 6 start-page: 143 year: 2005 end-page: 164 ident: bib8 article-title: Trade-offs in detecting evolutionarily constrained sequence by comparative genomics publication-title: Annu Rev Genomics Hum Genet – reference: Pasquet MC, Baudis M, Creveaux I, Kitzis A. Cystic Fibrosis Mutation Database, – volume: 4 start-page: 7 year: 2005 ident: 10.1016/j.jcf.2008.05.009_bib2 article-title: Disease modifying genes in cystic fibrosis publication-title: J Cyst Fibros doi: 10.1016/j.jcf.2005.05.006 – volume: 6 start-page: 387 year: 2004 ident: 10.1016/j.jcf.2008.05.009_bib10 article-title: Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel publication-title: Genet Med doi: 10.1097/01.GIM.0000139506.11694.7C – volume: 361 start-page: 1671 year: 2003 ident: 10.1016/j.jcf.2008.05.009_bib3 article-title: Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study publication-title: Lancet doi: 10.1016/S0140-6736(03)13368-5 – ident: 10.1016/j.jcf.2008.05.009_bib4 – ident: 10.1016/j.jcf.2008.05.009_bib1 – ident: 10.1016/j.jcf.2008.05.009_bib7 – volume: 6 start-page: 143 year: 2005 ident: 10.1016/j.jcf.2008.05.009_bib8 article-title: Trade-offs in detecting evolutionarily constrained sequence by comparative genomics publication-title: Annu Rev Genomics Hum Genet doi: 10.1146/annurev.genom.6.080604.162146 – volume: 21 start-page: 3176 year: 2005 ident: 10.1016/j.jcf.2008.05.009_bib9 article-title: PMUT: a web-based tool for the annotation of pathological mutations on proteins publication-title: Bioinformatics doi: 10.1093/bioinformatics/bti486 – ident: 10.1016/j.jcf.2008.05.009_bib5 – ident: 10.1016/j.jcf.2008.05.009_bib6 |
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| SubjectTerms | Adolescent Adult CFTR Cystic fibrosis Cystic Fibrosis - complications Cystic Fibrosis - genetics Cystic Fibrosis - pathology Cystic Fibrosis Transmembrane Conductance Regulator - genetics Exons - genetics Female Galicia Humans Male Mutation Mutation, Missense - genetics Pulmonary/Respiratory Spain |
| Title | Three novel mutations in the CFTR gene identified in Galician patients |
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