Subclinical lung disease, macrocytosis, and premature graying in kindreds with telomerase (TERT) mutations
AD De Leon, JT Cronkhite, C Yilmaz, C Brewington… - Chest, 2011 - Elsevier
Background Mutations in the human gene encoding the protein component of telomerase
(TERT) are the most common genetic defect in patients with familial idiopathic pulmonary
fibrosis (IPF). The subclinical phenotypes of asymptomatic members of these families have
not been evaluated with respect to TERT mutation status or telomere length. Methods We
measured a variety of pulmonary, blood, skin, and bone parameters for 20 subjects with
heterozygous TERT mutations (carriers) and 20 family members who had not inherited a …
(TERT) are the most common genetic defect in patients with familial idiopathic pulmonary
fibrosis (IPF). The subclinical phenotypes of asymptomatic members of these families have
not been evaluated with respect to TERT mutation status or telomere length. Methods We
measured a variety of pulmonary, blood, skin, and bone parameters for 20 subjects with
heterozygous TERT mutations (carriers) and 20 family members who had not inherited a …