A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia
JA Kropski, DB Mitchell, C Markin, VV Polosukhin… - Chest, 2014 - Elsevier
Short telomeres are frequently identified in patients with idiopathic pulmonary fibrosis (IPF)
and its inherited form, familial interstitial pneumonia (FIP). We identified a kindred with FIP
with short telomeres who did not carry a mutation in known FIP genes TERT or hTR. We
performed targeted sequencing of other telomere-related genes to identify the genetic basis
of FIP in this kindred. The proband was a 69 year-old man with dyspnea, restrictive
pulmonary function test results, and reticular changes on high-resolution CT scan. An older …
and its inherited form, familial interstitial pneumonia (FIP). We identified a kindred with FIP
with short telomeres who did not carry a mutation in known FIP genes TERT or hTR. We
performed targeted sequencing of other telomere-related genes to identify the genetic basis
of FIP in this kindred. The proband was a 69 year-old man with dyspnea, restrictive
pulmonary function test results, and reticular changes on high-resolution CT scan. An older …