A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita.

ABSTRACT:

Rationale

Dyskeratosis congenita (DC) is a rare inherited disease characterized by the classical mucocutaneous triad. Pulmonary fibrosis, bone marrow failure, and solid tumors are the main causes of mortality in DC. Pathogenic variants in TERT, TERC, and DKC1 have been identified in individuals with familial pulmonary fibrosis. Mutations in TINF2 gene have been reported to be associated with bone marrow failure in most cases. However, the relationship between TINF2 mutation and pulmonary fibrosis is not yet clear.

Patient concerns

Here, we report the case of a 32-year-old woman presented with irritating cough for 2 years and progressive breathlessness for 6 months.

Diagnoses

The patient was diagnosed with DC based on the following clinical evidences. Along with some f

SUBMITTER: Du H 

PROVIDER: S-EPMC5959423 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature