TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis
Pulmonary fibrosis is a frequent manifestation of telomere syndromes. Telomere gene mutations are found in up to 25% and 3% of patients with familial disease and sporadic disease, respectively. The telomere gene TINF2 encodes an eponymous protein that is part of the shelterin complex, a complex invo...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Pulmonology |
| Online Access: | http://dx.doi.org/10.1155/2016/1310862 |
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| author | T. W. Hoffman J. J. van der Vis M. F. M. van Oosterhout H. W. van Es D. A. van Kessel J. C. Grutters C. H. M. van Moorsel |
| author_facet | T. W. Hoffman J. J. van der Vis M. F. M. van Oosterhout H. W. van Es D. A. van Kessel J. C. Grutters C. H. M. van Moorsel |
| author_sort | T. W. Hoffman |
| collection | DOAJ |
| description | Pulmonary fibrosis is a frequent manifestation of telomere syndromes. Telomere gene mutations are found in up to 25% and 3% of patients with familial disease and sporadic disease, respectively. The telomere gene TINF2 encodes an eponymous protein that is part of the shelterin complex, a complex involved in telomere protection and maintenance. A TINF2 gene mutation was recently reported in a family with pulmonary fibrosis. We identified a heterozygous Ser245Tyr mutation in the TINF2 gene of previously healthy female patient that presented with progressive cough due to pulmonary fibrosis as well as panhypogammaglobulinemia at age 52. Retrospective multidisciplinary evaluation classified her as a case of possible idiopathic pulmonary fibrosis. Telomere length-measurement indicated normal telomere length in the peripheral blood compartment. This is the first report of a TINF2 mutation in a patient with sporadic pulmonary fibrosis, which represents another association between TINF2 mutations and this disease. Furthermore, this case underlines the importance of telomere dysfunction and not telomere length alone in telomere syndromes and draws attention to hypogammaglobulinemia as a manifestation of telomere syndromes. |
| format | Article |
| id | doaj-art-067f5a2eeeb44ab2a8442efe030ab1dd |
| institution | Kabale University |
| issn | 2090-6846 2090-6854 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pulmonology |
| spelling | doaj-art-067f5a2eeeb44ab2a8442efe030ab1dd2025-08-20T03:55:23ZengWileyCase Reports in Pulmonology2090-68462090-68542016-01-01201610.1155/2016/13108621310862TINF2 Gene Mutation in a Patient with Pulmonary FibrosisT. W. Hoffman0J. J. van der Vis1M. F. M. van Oosterhout2H. W. van Es3D. A. van Kessel4J. C. Grutters5C. H. M. van Moorsel6Department of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM Nieuwegein, NetherlandsDepartment of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM Nieuwegein, NetherlandsDepartment of Pathology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM Nieuwegein, NetherlandsDepartment of Radiology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM Nieuwegein, NetherlandsDepartment of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM Nieuwegein, NetherlandsDepartment of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM Nieuwegein, NetherlandsDepartment of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM Nieuwegein, NetherlandsPulmonary fibrosis is a frequent manifestation of telomere syndromes. Telomere gene mutations are found in up to 25% and 3% of patients with familial disease and sporadic disease, respectively. The telomere gene TINF2 encodes an eponymous protein that is part of the shelterin complex, a complex involved in telomere protection and maintenance. A TINF2 gene mutation was recently reported in a family with pulmonary fibrosis. We identified a heterozygous Ser245Tyr mutation in the TINF2 gene of previously healthy female patient that presented with progressive cough due to pulmonary fibrosis as well as panhypogammaglobulinemia at age 52. Retrospective multidisciplinary evaluation classified her as a case of possible idiopathic pulmonary fibrosis. Telomere length-measurement indicated normal telomere length in the peripheral blood compartment. This is the first report of a TINF2 mutation in a patient with sporadic pulmonary fibrosis, which represents another association between TINF2 mutations and this disease. Furthermore, this case underlines the importance of telomere dysfunction and not telomere length alone in telomere syndromes and draws attention to hypogammaglobulinemia as a manifestation of telomere syndromes.http://dx.doi.org/10.1155/2016/1310862 |
| spellingShingle | T. W. Hoffman J. J. van der Vis M. F. M. van Oosterhout H. W. van Es D. A. van Kessel J. C. Grutters C. H. M. van Moorsel TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis Case Reports in Pulmonology |
| title | TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis |
| title_full | TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis |
| title_fullStr | TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis |
| title_full_unstemmed | TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis |
| title_short | TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis |
| title_sort | tinf2 gene mutation in a patient with pulmonary fibrosis |
| url | http://dx.doi.org/10.1155/2016/1310862 |
| work_keys_str_mv | AT twhoffman tinf2genemutationinapatientwithpulmonaryfibrosis AT jjvandervis tinf2genemutationinapatientwithpulmonaryfibrosis AT mfmvanoosterhout tinf2genemutationinapatientwithpulmonaryfibrosis AT hwvanes tinf2genemutationinapatientwithpulmonaryfibrosis AT davankessel tinf2genemutationinapatientwithpulmonaryfibrosis AT jcgrutters tinf2genemutationinapatientwithpulmonaryfibrosis AT chmvanmoorsel tinf2genemutationinapatientwithpulmonaryfibrosis |