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Mucopolysaccharidosis Type II and the G374sp Mutation

E Martínez-Quintana1, F Rodríguez-González

  • 1Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Spain.

Molecular Syndromology
|June 27, 2013
PubMed

Insights

Hunter syndrome (Mucopolysaccharidosis type II) is a rare genetic disorder. This study details two siblings with MPS II, highlighting their diagnosis, management, and outcomes related to a specific genetic mutation.

Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is an X-linked lysosomal storage disease.
  • It results from iduronate-2-sulfatase deficiency, impairing glycosaminoglycan catabolism.
  • Accumulation of heparan and dermatan sulfate leads to multi-organ system damage.

Observation:

  • MPS II presents with diverse clinical manifestations, including neurological issues, airway obstruction, skeletal deformities, and cardiac valve regurgitation.
  • Disease severity varies, impacting lifespan and cognitive function.
  • Two siblings with MPS II and a specific G374sp mutation (c.1246 nucleotide) were analyzed.

Findings:

  • The study reports the clinical presentation, diagnostic process, treatment strategies, and outcomes for two affected siblings.
  • Specific focus on the G374sp mutation and its impact on MPS II progression.
  • Detailed case report illustrating the natural history and management of MPS II.

Implications:

  • Understanding genotype-phenotype correlations in MPS II is crucial for accurate diagnosis and prognosis.
  • This case highlights the importance of early identification and management of MPS II.
  • Further research into the G374sp mutation may inform therapeutic approaches for Hunter syndrome.
Keywords:
G374spHunterMucopolysaccharidosis type IIMutationSleep apneaValve

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