Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia: A Neurogenetic Description

Harvy Mauricio Velasco, Yasmin Sanchez, Angela Milena Martin, Luis A. Umaña

Research output: Contribution to journalReview articlepeer-review

11 Scopus citations


Mucopolysaccharidosis type III, or Sanfilippo syndrome, is an autosomal recessive disorder characterized by impairment in the degradation of Heparan sulfate. Here the authors describe the natural history of 5 related individuals; all associated through a large pedigree which reports a total of 11 affected members, originally from the Boyacá region in Colombia, diagnosed with MPS IIIC who all harbor a novel mutation in HGSNAT. The authors report an unusually high incidence of the disease in this population. The clinical features are similar to previously described patients, although some differences in the degree of severity and end-stage of the disease are seen in this specific group. The authors consider that the high degree of endogamy in this specific population could underlie modifying factors for the severity of presentation in these patients. Future studies might provide more information on the functional effect of this novel mutation, which could define this group as a genetic isolate.

Original languageEnglish (US)
Pages (from-to)177-183
Number of pages7
JournalJournal of child neurology
Issue number2
StatePublished - Feb 2017


  • Mucopolysaccharidosis IIIC
  • disease progression
  • endophenotype
  • lysosomal storage disease
  • neurocognitive disorder

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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