TINF2Gene Mutation in a Patient with Pulmonary Fibrosis

Abstract excerpt

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...

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• Share to Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
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