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Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism

Luigi Boccuto1, Ludovico Abenavoli2, Lauren Cascio1

  • 1Greenwood Genetic Center, Greenwood, South Carolina.

Clinical Genetics
|October 12, 2018
PubMed

Insights

The PNPLA3 p.I148M variant in Phelan-McDermid syndrome (PMS) patients is linked to liver issues and refractory seizures. Identifying this variant aids in personalized treatment for liver dysfunction and epilepsy.

Area of Science:

  • Genetics
  • Hepatology
  • Neurology

Background:

  • Phelan-McDermid syndrome (PMS) is a genetic disorder associated with chromosome 22q13 deletions.
  • The Patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene plays a role in lipid metabolism and liver health.

Observation:

  • The PNPLA3 p.I148M variant was identified in two PMS patients with severe symptoms.
  • These patients exhibited refractory seizures, gastrointestinal problems, and liver dysfunction.

Findings:

  • The PNPLA3 p.I148M variant is associated with macrovesicular steatosis, increasing susceptibility to liver conditions like steatohepatitis and fibrosis.
  • Lipid accumulation in hepatocytes may impact anti-epileptic drug metabolism, potentially explaining treatment resistance.

Implications:

  • Screening for the PNPLA3 p.I148M variant can identify PMS patients at elevated risk for liver disease.
  • This genetic information can guide the development of personalized therapeutic strategies for PMS patients, particularly for managing liver complications and refractory epilepsy.

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