Unearthing TULP3 Mutation as a Rare Cause of Cryptogenic Cirrhosis: A Case Report and Review of the Literature

Abstract

Whole-exome sequencing may help unearth uncommon monogenic causes of cryptogenic cirrhosis and portal hypertension. Tubby-like protein 3 (TULP3) gene encodes the tubby domain family of proteins, mutations of which is associated with progressive degenerative disease of major organs such as kidney, heart, and liver. Here we report a case of a young male with decompensated cirrhosis who was ultimately identified with homozygous pathogenic splice donor variant c.492+1G > A in intron 5 of TULP3 gene.