{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Groen K"],"funding":["Longfibrose patiëntenvereniging / Pendersfonds","ZonMW TopZorg St. Antonius Care","St. Antonius Onderzoeksfonds","ZonMw","ZonMW Topspecialistische Zorg en Onderzoek"],"pagination":["00487-2023"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10875464"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10(1)"],"pubmed_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"],"journal":["ERJ open research"],"pubmed_title":["A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung."],"pmcid":["PMC10875464"],"funding_grant_id":["NA","842002001","10070012010004"],"pubmed_authors":["Verkerk AJMH","Grutters JC","Arp P","Kazemier KM","de Bie CI","van Beek FT","van Moorsel CHM","van der Vis JJ","Schoemaker AE","Vergouw LJM","Massink MPG","Groen K","de Bruijn MJW","Stadhouders R","van Batenburg AA"],"additional_accession":[]},"is_claimable":false,"name":"A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung.","description":"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","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jan","modification":"2026-07-14T18:21:00.775Z","creation":"2025-05-31T23:28:59.521Z"},"accession":"S-EPMC10875464","cross_references":{"pubmed":["38375433"],"doi":["10.1183/23120541.00487-2023"]}}