Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis
JK Alder, SE Stanley, CL Wagner, M Hamilton… - Chest, 2015 - Elsevier
BACKGROUND Short telomeres are a common defect in idiopathic pulmonary fibrosis, yet
mutations in the telomerase genes account for only a subset of these cases. METHODS We
identified a family with pulmonary fibrosis, idiopathic infertility, and short telomeres.
RESULTS Exome sequencing of blood-derived DNA revealed two mutations in the telomere-
binding protein TINF2. The first was a 15-base-pair deletion encompassing the exon 6 splice
acceptor site, and the second was a missense mutation, Thr284Arg. Haplotype analysis …
mutations in the telomerase genes account for only a subset of these cases. METHODS We
identified a family with pulmonary fibrosis, idiopathic infertility, and short telomeres.
RESULTS Exome sequencing of blood-derived DNA revealed two mutations in the telomere-
binding protein TINF2. The first was a 15-base-pair deletion encompassing the exon 6 splice
acceptor site, and the second was a missense mutation, Thr284Arg. Haplotype analysis …