Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis
Cystic fibrosis (CF; OMIM number 219700) is an autosomal recessive disease caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which results in abnormal viscous mucoid secretions in multiple organs and whose main clinical features are pancreatic insufficiency,...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2015/289627 |
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| author | Rossana Molinario Sara Palumbo Paola Concolino Sandro Rocchetti Roberta Rizza Giovanni Luca Scaglione Angelo Minucci Ettore Capoluongo |
| author_facet | Rossana Molinario Sara Palumbo Paola Concolino Sandro Rocchetti Roberta Rizza Giovanni Luca Scaglione Angelo Minucci Ettore Capoluongo |
| author_sort | Rossana Molinario |
| collection | DOAJ |
| description | Cystic fibrosis (CF; OMIM number 219700) is an autosomal recessive disease caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which results in abnormal viscous mucoid secretions in multiple organs and whose main clinical features are pancreatic insufficiency, chronic endobronchial infection, and male infertility. We report the case of a 47-year-old apparently normal male resulting in homozygosity for the mutation p.M348K from nonconsanguineous parents. The proband was screened using a standard panel of 70 different tested on NanoChip 400 platform. The massive parallel pyrosequencing on 454 JS machine allowed the second level analysis. The patient was firstly screened with two different platforms available in our laboratory, obtaining an ambiguous signal for the p.R347P mutation. For this reason we decided to clarify the discordant result of CFTR status by Next Generation Sequencing (NGS) using 454 Junior instrument. The patient is resulted no carrier of the p.R347P mutation, but NGS highlighted a homozygous substitution from T>A at position 1043 in the coding region, causing an amino acid substitution from methionine to lysine (p.M348K). Casual finding of p.M348K homozygote mutation in an individual, without any feature of classical or nonclassical CF form, allowed us to confirm that p.M348K is a benign rare polymorphism. |
| format | Article |
| id | doaj-art-7e07b19b269f44a1957a7b0cb5dfb213 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-7e07b19b269f44a1957a7b0cb5dfb2132025-08-20T03:35:24ZengWileyCase Reports in Genetics2090-65442090-65522015-01-01201510.1155/2015/289627289627Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic FibrosisRossana Molinario0Sara Palumbo1Paola Concolino2Sandro Rocchetti3Roberta Rizza4Giovanni Luca Scaglione5Angelo Minucci6Ettore Capoluongo7Laboratory of Clinical Molecular and Personalized Diagnostics, Department of Laboratory Medicine, University Hospital “A. Gemelli”, 8 Largo A. Gemelli, 00168 Rome, ItalyLaboratory of Clinical Molecular and Personalized Diagnostics, Department of Laboratory Medicine, University Hospital “A. Gemelli”, 8 Largo A. Gemelli, 00168 Rome, ItalyLaboratory of Clinical Molecular and Personalized Diagnostics, Department of Laboratory Medicine, University Hospital “A. Gemelli”, 8 Largo A. Gemelli, 00168 Rome, ItalyLaboratory of Clinical Molecular and Personalized Diagnostics, Department of Laboratory Medicine, University Hospital “A. Gemelli”, 8 Largo A. Gemelli, 00168 Rome, ItalyLaboratory of Clinical Molecular and Personalized Diagnostics, Department of Laboratory Medicine, University Hospital “A. Gemelli”, 8 Largo A. Gemelli, 00168 Rome, ItalyLaboratory of Clinical Molecular and Personalized Diagnostics, Department of Laboratory Medicine, University Hospital “A. Gemelli”, 8 Largo A. Gemelli, 00168 Rome, ItalyLaboratory of Clinical Molecular and Personalized Diagnostics, Department of Laboratory Medicine, University Hospital “A. Gemelli”, 8 Largo A. Gemelli, 00168 Rome, ItalyLaboratory of Clinical Molecular and Personalized Diagnostics, Department of Laboratory Medicine, University Hospital “A. Gemelli”, 8 Largo A. Gemelli, 00168 Rome, ItalyCystic fibrosis (CF; OMIM number 219700) is an autosomal recessive disease caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which results in abnormal viscous mucoid secretions in multiple organs and whose main clinical features are pancreatic insufficiency, chronic endobronchial infection, and male infertility. We report the case of a 47-year-old apparently normal male resulting in homozygosity for the mutation p.M348K from nonconsanguineous parents. The proband was screened using a standard panel of 70 different tested on NanoChip 400 platform. The massive parallel pyrosequencing on 454 JS machine allowed the second level analysis. The patient was firstly screened with two different platforms available in our laboratory, obtaining an ambiguous signal for the p.R347P mutation. For this reason we decided to clarify the discordant result of CFTR status by Next Generation Sequencing (NGS) using 454 Junior instrument. The patient is resulted no carrier of the p.R347P mutation, but NGS highlighted a homozygous substitution from T>A at position 1043 in the coding region, causing an amino acid substitution from methionine to lysine (p.M348K). Casual finding of p.M348K homozygote mutation in an individual, without any feature of classical or nonclassical CF form, allowed us to confirm that p.M348K is a benign rare polymorphism.http://dx.doi.org/10.1155/2015/289627 |
| spellingShingle | Rossana Molinario Sara Palumbo Paola Concolino Sandro Rocchetti Roberta Rizza Giovanni Luca Scaglione Angelo Minucci Ettore Capoluongo Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis Case Reports in Genetics |
| title | Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis |
| title_full | Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis |
| title_fullStr | Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis |
| title_full_unstemmed | Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis |
| title_short | Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis |
| title_sort | incidental finding of a homozygous p m348k asymptomatic italian patient confirms the many faces of cystic fibrosis |
| url | http://dx.doi.org/10.1155/2015/289627 |
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