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Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular Characterization

Harry Pachajoa1,2, Angelica Claros-Hulbert3,4, Ximena García-Quintero3,4

  • 1Faculty of Health Sciences, Congenital Anomalies and Rare Diseases Investigation Center (CIACER), Universidad Icesi, Cali, Colombia.

The Application of Clinical Genetics
|September 18, 2020
PubMed

Insights

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic condition. This case study details a 14-year-old patient with HGPS, highlighting a specific mutation and reviewing treatment options.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatrics
  • Rare Diseases

Background:

  • Hutchinson-Gilford progeria syndrome (HGPS) is a rare, fatal genetic disorder.
  • Caused by mutations in the LMNA gene, HGPS presents with premature aging symptoms.
  • Affected children typically have a significantly reduced life expectancy.

Observation:

  • A 14-year-old female patient in Latin America presented with clinical features consistent with HGPS.
  • Phenotypic characteristics included lipodystrophy, short stature, scleroderma, and cardiovascular issues.
  • The patient exceeded the average age expectancy for HGPS.

Findings:

  • LMNA gene sequencing confirmed HGPS in the patient.
  • A heterozygous c.1824C>T (p.Gly608Gly) mutation in the LMNA gene was identified.
  • This molecular finding is linked to the patient's HGPS diagnosis.

Implications:

  • This case highlights a patient with HGPS surviving beyond typical expectations.
  • It underscores the importance of molecular diagnosis in rare genetic conditions.
  • Reviews limited treatment options, including farnesyl transferase inhibitors, for improving health and survival in HGPS patients.

Keywords:
HGPSgenetic assessmentlaminopathypremature agingprogeriatreatment

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