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Novel PLEC variants associated with infantile cholestasis

Phawin Kor-Anantakul1,2, Huey-Ling Chen3, Ya-Hui Chen3

  • 1Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Clinical Genetics
|August 21, 2024
PubMed

Insights

Plectin mutations cause cholestatic jaundice in infants. Exome sequencing identified novel PLEC gene variants, confirming plectin

Area of Science:

  • Genetics
  • Molecular Biology
  • Hepatology

Background:

  • Plectin (PLEC) is an intermediate filament cytoskeletal linker.
  • Plectin mutations have been linked to progressive familial intrahepatic cholestasis.
  • Infantile cholestasis presents a diagnostic challenge.

Purpose of the Study:

  • To investigate the role of plectin in infantile cholestatic jaundice.
  • To identify genetic variants associated with plectin-related cholestasis.
  • To evaluate exome sequencing for diagnosing genetic causes of infantile cholestasis.

Main Methods:

  • Trio exome sequencing was performed on two unrelated infants with cholestatic jaundice.
  • Genetic variants in the PLEC gene were identified.
  • Immunofluorescence staining of liver biopsy samples was conducted to assess plectin and cytokeratin 8 localization.

Main Results:

  • Two infants presented with cholestatic jaundice due to compound heterozygous variants in the PLEC gene.
  • Novel PLEC variants, including c.71-11768C>T, c.4331G>T, c.592C>T, and c.4322G>A, were identified.
  • Liver samples showed reduced plectin and cytokeratin 8 colocalization in hepatocytes.

Conclusions:

  • Plectin plays a role in cholestasis, with mutations leading to infantile cholestatic jaundice.
  • Novel PLEC gene variants are associated with this condition.
  • Exome sequencing is an effective diagnostic tool for identifying genetic causes of infantile cholestasis.

Keywords:
PLECcholestasisexome sequencinginfantnovel variantplectin

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