TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis
| Autor: | Thijs W. Hoffman, J.C. Grutters, H.W. van Es, J J van der Vis, D.A. van Kessel, M.F.M. van Oosterhout, C.H.M. van Moorsel |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pulmonary and Respiratory Medicine lcsh:RC705-779 Pathology medicine.medical_specialty Mutation business.industry Case Report lcsh:Diseases of the respiratory system Gene mutation TINF2 medicine.disease medicine.disease_cause Telomere Hypogammaglobulinemia 03 medical and health sciences Idiopathic pulmonary fibrosis 030104 developmental biology Pulmonary fibrosis Immunology TINF2 Gene Journal Article Medicine business |
| Zdroj: | Case Reports in Pulmonology, 2016 Case Reports in Pulmonology, Vol 2016 (2016) Case Reports in Pulmonology |
| ISSN: | 2090-6846 |
| Popis: | 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 geneTINF2encodes an eponymous protein that is part of the shelterin complex, a complex involved in telomere protection and maintenance. ATINF2gene mutation was recently reported in a family with pulmonary fibrosis. We identified a heterozygous Ser245Tyr mutation in theTINF2gene 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 betweenTINF2mutations 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. |
| Databáze: | OpenAIRE |
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