Article
Pulmonary Fibrosis and a TERT Founder Mutation With a Latency Period of 300 Years.
Chest - 1 Aug 2020
van der Vis Joanne J, van der Smagt Jasper J, Hennekam Frederic A M, Grutters Jan C, van Moorsel Coline H M
Abstract excerpt
BACKGROUND: Germline mutations in the gene encoding TERT cause haploinsufficiency with subsequent telomere shortening. TERT mutations are associated with short telomere syndromes, such as pulmonary fibrosis (PF), which is often the first manifestation of a short telomere syndrome. Telomere length is heritable, and progeny of telomerase mutation carriers are known to have shorter telomeres. In families with TERT...
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