Synonymous mutation in DKC1 causes telomerase RNA insufficiency manifesting as familial pulmonary fibrosis
V Gaysinskaya, SE Stanley, S Adam, M Armanios - Chest, 2020 - Elsevier
Background Idiopathic pulmonary fibrosis (IPF) is the most common of short telomere
phenotypes. Familial clustering of IPF is common, but the genetic basis remains unknown in
more than one-half of cases. We identified a 65-year-old man with familial IPF, short
telomere length, and low telomerase RNA levels. He was diagnosed with a short telomere
syndrome after developing hematologic complications post-lung transplantation, but no
mutations were identified in a clinical testing pipeline. Research Question What is the …
phenotypes. Familial clustering of IPF is common, but the genetic basis remains unknown in
more than one-half of cases. We identified a 65-year-old man with familial IPF, short
telomere length, and low telomerase RNA levels. He was diagnosed with a short telomere
syndrome after developing hematologic complications post-lung transplantation, but no
mutations were identified in a clinical testing pipeline. Research Question What is the …