Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family study.

ABSTRACT:

Background and aims

Porto-sinusoidal vascular disorder (PSVD) is a group of liver vascular diseases featuring lesions encompassing the portal venules and sinusoids unaccompanied by cirrhosis, irrespective of the presence/absence of portal hypertension. It can occur secondary to coagulation disorders or insult by toxic agents. However, the cause of PSVD remains unknown in most cases. Hereditary cases of PSVD are exceptionally rare, but they are of particular interest and may unveil genetic alterations and molecular mechanisms associated with the disease.

Approach and results

We performed genome sequencing of four patients and two healthy individuals of a large multigenerational Lebanese family with PSVD and identified a heterozygous deleterious variant (c.547C>T, p.R183W) of

SUBMITTER: Shan J 

PROVIDER: S-EPMC9869943 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature