Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis.

ABSTRACT:

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 molecular basis underlying the familial IPF and low telomerase RNA levels in this patient?

Study design and methods

We analyzed whole-genome sequence data and performed functional molecular studies on cells derived from the patient and his family.

Resul

SUBMITTER: Gaysinskaya V 

PROVIDER: S-EPMC7768939 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature