A Novel Phosphoinositide-3-kinase Adapter Protein 1 Gene Missense Mutation in Familial Cirrhosis

  • J Clin Exp Hepatol. 2019 Sep-Oct;9(5):652-656. doi: 10.1016/j.jceh.2019.02.002.
Cyriac Abby Philips  1 ,  Meenal Agarwal  2 ,  Nikhil Phadke  3 ,  Sasidharan Rajesh  1 ,  Guruprasad Padsalgi  1 ,  Rizwan Ahamed  1 ,  Philip Augustine  1
Affiliations
  • 1. The Liver Unit, Cochin Gastroenterology Group, Ernakulam Medical Centre, Kochi, Kerala, India.
  • 2. Medical Genetics, Genepath-Dx, Pune, Maharashtra, India.
  • 3. Molecular, Cellular and Developmental Biology, Genepath-Dx, Pune, Maharashtra, India.
PMID: 31695254 DOI: 10.1016/j.jceh.2019.02.002
Abstract

Familial cirrhosis is a condition that is associated with the presence of Liver Disease with genetic linkage among multiple family members in a generation or in multiple generations. With cirrhosis, most of these disease pathogeneses are related to a defect of an enzyme/transport protein leading to a deranged metabolic pathway with variable prevalence. Many studies and high-quality metanalyses have shed light on genetic linkage associated with nonalcoholic Fatty Liver Disease and steatohepatitis such as the PNPLA3, MBOAT7, and TM6SF2 variants. In this report, we shed light on a novel missense mutation associated with cirrhosis in a family of brothers associated with phosphoinositide-3-kinase adapter protein 1 gene through high-output whole exosome gene Sequencing methodology.

Keywords
CCDS, Consensus Coding Sequence; DNA, Deoxyribonucleic acid; EWAS, Epigenome wide association study; GWAS, Genome-wide association studies; HCC, Hepatocellular carcinoma; HGVS, Human Genome Variation Society; MBOAT7, Membrane bound O-acyltransferase domain-containing 7; NAFLD, Non-alcoholic fatty liver disease; NGS, Next generation sequencing; OMIM, Online Mendelian Inheritance in Man; PBC, Primary biliary cholangitis; PI3K; PIK3AP1, Phosphoinositide-3-Kinase Adapter Protein 1; PNPLA3; PNPLA3, Patatin-like phospholipase domain containing 3; RNA, Ribosomal nucleic acid; RefSeq, Reference Sequence Database; TMC4, Transmembrane channel-like 4 gene; chronic liver disease; epigenetics; exosome; familial cirrhosis; gene mutation; genomics; illumina; linkage; metagenome; missense mutation.