AUTHOR=Yu Ziqi , Shen Xiang , Hu Chong , Zeng Jun , Wang Aiyao , Chen Jianyong 

TITLE=Molecular Mechanisms of Isolated Polycystic Liver Diseases

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.846877

DOI=10.3389/fgene.2022.846877

ISSN=1664-8021

ABSTRACT=<p>Polycystic liver disease (PLD) is a rare autosomal dominant disorder including two genetically and clinically distinct forms: autosomal dominant polycystic kidney disease (ADPKD) and isolated polycystic liver disease (PCLD). The main manifestation of ADPKD is kidney cysts, while PCLD has predominantly liver presentations with mild or absent kidney cysts. Over the past decade, <italic>PRKCSH</italic>, <italic>SEC63</italic>, <italic>ALG8</italic>, and <italic>LRP5</italic> have been candidate genes of PCLD. Recently, more candidate genes such as <italic>GANAB</italic>, <italic>SEC61B</italic>, and <italic>ALR9</italic> were also reported in PCLD patients. This review focused on all candidate genes of PCLD, including the newly established novel candidate genes. In addition, we also discussed some other genes which might also contribute to the disease.</p>