Clinical utility of genomic analysis in adults with idiopathic liver disease.

ABSTRACT:

Background & aims

Adult patients suffering from liver disease of unknown cause represent an understudied and underserved population. The use of whole-exome sequencing (WES) for the assessment of a broader spectrum of non-oncological diseases, among adults, remains poorly studied. We assessed the utility of WES in the diagnosis and management of adults with unexplained liver disease despite comprehensive evaluation by a hepatologist and with no history of alcohol overuse.

Methods

We performed WES and deep phenotyping of 19 unrelated adult patients with idiopathic liver disease recruited at a tertiary academic health care center in the US.

Results

Analysis of the exome in 19 cases identified 4 monogenic disorders in 5 unrelated adults. Patient 1 suffered for 18 years fr

SUBMITTER: Hakim A 

PROVIDER: S-EPMC6526061 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature