Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis.

ABSTRACT:

Background & aims

Primary sclerosing cholangitis (PSC) is a rare bile duct disease strongly associated with inflammatory bowel disease (IBD). Whole-exome sequencing (WES) has contributed to understanding the molecular basis of very early-onset IBD, but rare protein-altering genetic variants have not been identified for early-onset PSC. We performed WES in patients diagnosed with PSC ≤ 12 years to investigate the contribution of rare genetic variants to early-onset PSC.

Methods

In this multicentre study, WES was performed on 87 DNA samples from 29 patient-parent trios with early-onset PSC. We selected rare (minor allele frequency < 2%) coding and splice-site variants that matched recessive (homozygous and compound heterozygous variants) and dominant (de novo) inheritance in t

SUBMITTER: Haisma SM 

PROVIDER: S-EPMC8252477 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature