Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11
We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both parents of Georgian and Ukrainian background had no personal or family history o...
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| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2014/613863 |
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| author | Vassos Neocleous Panayiotis K. Yiallouros George A. Tanteles Constantina Costi Maria Moutafi Phivos Ioannou Philippos C. Patsalis Carolina Sismani Leonidas A. Phylactou |
| author_facet | Vassos Neocleous Panayiotis K. Yiallouros George A. Tanteles Constantina Costi Maria Moutafi Phivos Ioannou Philippos C. Patsalis Carolina Sismani Leonidas A. Phylactou |
| author_sort | Vassos Neocleous |
| collection | DOAJ |
| description | We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both parents of Georgian and Ukrainian background had no personal or family history of the disease.
The initial molecular diagnostic investigation identified the patient as homozygous for the p.Phe508del and not compatible with his parent’s genetic status. The possibility of nonpaternity or uniparental disomy (UPD7) was investigated and excluded using microsatellite analysis of highly polymorphic markers on chromosome 7. Array-CGH was also performed on the patient and revealed a male profile with a subtle deletion within the CFTR gene on the long arm (q-arm) of chromosome 7 (7q31.2). The deletion was confirmed by MLPA extending from probe L02380 to probe L14978 (28.7 kb) and that was inherited from his father, while p.PheF508del was inherited from his mother. These data highlight the need for additional testing for large deletions in patients with apparent homozygosity for a mutated CFTR allele that do not match the carrier status of the parents. Not testing can lead to misdiagnosis and misinterpretation of mutation carrier status and the expected penetrance of the disorder. |
| format | Article |
| id | doaj-art-e662a2b1a5264bd7a2e61330b16eb131 |
| institution | OA Journals |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-e662a2b1a5264bd7a2e61330b16eb1312025-08-20T02:21:03ZengWileyCase Reports in Genetics2090-65442090-65522014-01-01201410.1155/2014/613863613863Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11Vassos Neocleous0Panayiotis K. Yiallouros1George A. Tanteles2Constantina Costi3Maria Moutafi4Phivos Ioannou5Philippos C. Patsalis6Carolina Sismani7Leonidas A. Phylactou8Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, CyprusDepartment of Pediatrics, Hospital “Archbishop Makarios III”, 1474 Nicosia, CyprusDepartment of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, CyprusDepartment of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, CyprusDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, CyprusDepartment of Pediatrics, Hospital “Archbishop Makarios III”, 1474 Nicosia, CyprusTranslational Genomics Team, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, CyprusDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, CyprusDepartment of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, CyprusWe report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both parents of Georgian and Ukrainian background had no personal or family history of the disease. The initial molecular diagnostic investigation identified the patient as homozygous for the p.Phe508del and not compatible with his parent’s genetic status. The possibility of nonpaternity or uniparental disomy (UPD7) was investigated and excluded using microsatellite analysis of highly polymorphic markers on chromosome 7. Array-CGH was also performed on the patient and revealed a male profile with a subtle deletion within the CFTR gene on the long arm (q-arm) of chromosome 7 (7q31.2). The deletion was confirmed by MLPA extending from probe L02380 to probe L14978 (28.7 kb) and that was inherited from his father, while p.PheF508del was inherited from his mother. These data highlight the need for additional testing for large deletions in patients with apparent homozygosity for a mutated CFTR allele that do not match the carrier status of the parents. Not testing can lead to misdiagnosis and misinterpretation of mutation carrier status and the expected penetrance of the disorder.http://dx.doi.org/10.1155/2014/613863 |
| spellingShingle | Vassos Neocleous Panayiotis K. Yiallouros George A. Tanteles Constantina Costi Maria Moutafi Phivos Ioannou Philippos C. Patsalis Carolina Sismani Leonidas A. Phylactou Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11 Case Reports in Genetics |
| title | Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11 |
| title_full | Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11 |
| title_fullStr | Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11 |
| title_full_unstemmed | Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11 |
| title_short | Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11 |
| title_sort | apparent homozygosity of p phe508del in cftr due to a large gene deletion of exons 4 11 |
| url | http://dx.doi.org/10.1155/2014/613863 |
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