Impaired CFTR function in mild cystic fibrosis associated with the S977F/T5TG12complex allele in trans with F508del mutation
| Autor: | Carlo Castellani, Genny Verzè, Paola Melotti, Michele Ettorre, Chiara Angiari, Jan Evert Johansson, Mario Rosario Buffelli, Claudio Sorio, Baroukh M. Assael |
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| Jazyk: | angličtina |
| Předmět: |
Adult
Male Pulmonary and Respiratory Medicine Pathology medicine.medical_specialty DNA Mutational Analysis Cystic Fibrosis Transmembrane Conductance Regulator medicine.disease_cause Cystic fibrosis Membrane Potentials Cystic fibrosis conductance transmembrane regulator medicine Humans Pediatrics Perinatology and Child Health Allele cystic fibrosis cystic fibrosis conductance transmembrane regulator mutation analysis nasal potential difference measurements Alleles Azoospermia Mutation Nasal potential difference measurements business.industry Monocyte medicine.disease Phenotype Nasal Mucosa medicine.anatomical_structure Mutation analysis Pediatrics Perinatology and Child Health Immunology Mutation testing Acute pancreatitis business |
| Zdroj: | Journal of Cystic Fibrosis. (6):821-825 |
| ISSN: | 1569-1993 |
| DOI: | 10.1016/j.jcf.2012.12.014 |
| Popis: | Background: The S977F mutation (c.2930CNT) in the CFTR gene (CFTR/ABCC7) is extremely rare. We describe the case of an adult patient carrying the complex allele S977F/T5TG12 in trans with the F508del mutation. Mild respiratory manifestations arose in adulthood associated with azoospermia, acute pancreatitis, minor hemoptysis and Cllevels ranging from 40 to 42 mEq/L. Method: Diagnosis was confirmed by repeated NPD measurements, genetic DHPLC analysis and a recently described functional assay measuring cAMP-dependent cell depolarization in peripheral blood monocytes. Results: NPD measurements, DHPLC and monocyte functional assay (CF index=�18). Results were consistent with a CF phenotype. Conclusions: The combined application of DHPLC and NPD analysis in the algorithm for CF diagnosis appears useful for the management of similar cases. In addition, the novel monocyte functional assay might contribute to improve our diagnostic capability, counseling and better treatment of these challenging clinical cases. Published by Elsevier B.V. on behalf of European Cystic Fibrosis Society. |
| Databáze: | OpenAIRE |
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