| Author | Martins, Raisa da Silva | |
| Author | Fonseca, Ana Carolina Proença | |
| Author | Acosta, Franklyn Enrique Samudio | |
| Author | Folescu, Tania Wrobel | |
| Author | Higa, Laurinda Yoko Shinzato | |
| Author | Sad, Izabela Rocha | |
| Author | Chaves, Célia Regina Moutinho de Miranda | |
| Author | Cabello, Pedro Hernan | |
| Author | Cabello, Giselda Maria Kalil | |
| Access date | 2015-03-04T12:37:19Z | |
| Available date | 2015-03-04T12:37:19Z | |
| Document date | 2014 | |
| Citation | MARTINS, Raisa da Silva. et al. Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report. BCM Research Notes, London, v. 7, n. 583, p. 1-4, Aug. 2014. | pt_BR |
| ISSN | 1756-0500 | |
| URI | https://www.arca.fiocruz.br/handle/icict/9604 | |
| Language | eng | pt_BR |
| Publisher | BioMed Central | pt_BR |
| Rights | open access | |
| Title | Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report | pt_BR |
| Type | Article | |
| Abstract | Background:Over 1900 mutations have been identified in the cystic fibrosis conductance transmembrane
regulator gene, including single nucleotide substitutions, insertions, and deletions. Unidentified mutations may
still lie in introns or in regulatory regions, which are not routinely investigated, or in large genomic deletions,
which are not revealed by conventional molecular analysis. The apparent homozygosity for a rare, cystic fibrosis
conductance transmembrane regulator mutation screened by standard molecular analysis should be further
investigated to confirm if the mutation is in fact homozygous. We describe a patient presenting with an
apparent homozygousS4Xmutation.
Case presentation:A 13-year-old female patient of African descent with clinical symptoms of classic cystic
fibrosis and a positive sweat test (97 mEq/L, diagnosed at age 3 years) presented with pancreatic insufficiency
and severe pulmonary symptoms (initial lung colonization withPseudomonas aeruginosaat age 4 years; forced vital
capacity: 69%; forced expiratory volume: 51%; 2011). Furthermore, she developed severe acute lung disease and
recurrent episodes of dehydration requiring hospitalization. The girl carried the CFTRmutationS4Xin apparent
homozygosity. However, further analysis revealed a large deletion in the second allele that included the region of
the mutation. The deletion that we describe includes nucleotides 120–142, which correspond to a loss of 23
nucleotides that abolishes the normal translation initiation codon.
Conclusion:This study reiterates the view that large, cystic fibrosis conductance transmembrane regulator
deletions are an important cause of severe cystic fibrosis and emphasizes the importance of including large
deletions/duplications in cystic fibrosis conductance transmembrane regulator diagnostic tests. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório Interdisciplinar de Pesquisas Médicas. Rio de Janeiro, RJ, Brasil. / Instituto Conmemorativo Gorgas de Estudios de la Salud. Laboratório de Parasitologia. Panama City, Panama. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Pneumologia. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Pneumologia. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Pneumologia. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Nutrição. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. / Universidade do Grande Rio. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Subject | Cystic Fibrosis | pt_BR |
| Subject | CFTR | pt_BR |
| Subject | Apparent Homozygosis | pt_BR |
| Subject | Large Deletion | pt_BR |
| Subject | Severe Phenotype | pt_BR |
| Subject | Brazilian Patient | pt_BR |
| DeCS | Fibrose Cística | pt_BR |
| DeCS | Supressão | pt_BR |
| DeCS | Fenótipo | pt_BR |
| DeCS | Pacientes | pt_BR |
