Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome.

ABSTRACT:

Introduction

Telomeropathies are associated with a wide range of diseases and less common combinations of various pulmonary and extrapulmonary disorders.

Case presentation

In proband with high-risk myelodysplastic syndrome and interstitial pulmonary fibrosis, whole exome sequencing revealed a germline heterozygous variant of CTC1 gene (c.1360delG). This "frameshift" variant results in a premature stop codon and is classified as likely pathogenic/pathogenic. So far, this gene variant has been described in a heterozygous state in adult patients with hematological diseases such as idiopathic aplastic anemia or paroxysmal nocturnal hemoglobinuria, but also in interstitial pulmonary fibrosis. Described CTC1 gene variant affects telomere length and leads to telomerop

SUBMITTER: Doubkova M 

PROVIDER: S-EPMC10316942 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature