A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung.

ABSTRACT:

Introduction

Pulmonary fibrosis is a severe disease which can be familial. A genetic cause can only be found in ∼40% of families. Searching for shared novel genetic variants may aid the discovery of new genetic causes of disease.

Methods

Whole-exome sequencing was performed in 152 unrelated patients with a suspected genetic cause of pulmonary fibrosis from the St Antonius interstitial lung disease biobank. Variants of interest were selected by filtering for novel, potentially deleterious variants that were present in at least three unrelated pulmonary fibrosis patients.

Results

The novel c.586G>A p.(E196K) variant in the ZCCHC8 gene was observed in three unrelated patients: two familial patients and one sporadic patient, who was later genealogically linked to o

SUBMITTER: Groen K 

PROVIDER: S-EPMC10875464 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature