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Prader-Willi Syndrome and PCSK1 mutation: a novel presentation of combined syndromic and monogenic obesity

E Kostopoulou1, D X Spilioti, N D Pantzaris

  • 1Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, University of Patras School of Medicine, Patras, Greece. spilioti@upatras.gr.

European Review for Medical and Pharmacological Sciences
|April 20, 2022
PubMed

Insights

Prader-Willi syndrome (PWS) patients may have PCSK1 gene mutations, not just chromosomal abnormalities. Investigating PCSK1 mutations could offer new treatment options for PWS.

Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • Prader-Willi syndrome (PWS) is a genetic imprinting disorder linked to chromosome 15q11.2-q13 deletions.
  • The PCSK1 gene is crucial for processing POMC in the hypothalamus, regulating appetite and energy expenditure.
  • The melanocortin-4 receptor (MC4R) pathway is a key target for managing obesity.

Observation:

  • A 27-year-old male with PWS presented with severe obesity, hyperphagia, and other endocrine and sleep disturbances.
  • Initial genetic testing at age 6 confirmed PWS due to a 15q11q13 deletion.
  • Further genetic analysis at age 27 revealed a PCSK1 gene mutation (PCSK1_pN221D_HET).

Findings:

  • Next-generation sequencing identified a heterozygous PCSK1_pN221D_HET mutation in the PWS patient.
  • This mutation affects the function of the PCSK1 gene, which is vital for hormone processing.
  • The study highlights the potential for diverse genetic causes within PWS.

Implications:

  • PWS patients may harbor additional genetic defects beyond the typical 15q11q13 deletion.
  • Investigating PCSK1 mutations in PWS could reveal new therapeutic targets.
  • This research opens avenues for personalized treatment strategies in PWS management.
Abstract

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