title: Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia.
abstract: 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.
authors.affiliation: 1 Departamento de Morfología, Facultad de Medicina, Maestría en Genética Humana, Universidad Nacional de Colombia, Bogotá, Colombia.
authors.forename: Harvy Mauricio
authors.initials: HM
authors.lastname: Velasco
authors.affiliation: 2 Neuropediatría, Hospital San Rafael de Tunja, Universidad Pedagógica y Tecnológica de Colombia, Tunja, Boyacá, Colombia.
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Sanchez
authors.affiliation: 3 Departamento de Morfología, Facultad de Medicina, Maestría en Genética Humana, Universidad Nacional de Colombia, Bogotá, Colombia.
authors.forename: Angela Milena
authors.initials: AM
authors.lastname: Martin
authors.affiliation: 4 Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA.
authors.forename: Luis A
authors.initials: LA
authors.lastname: Umaña
mesh_terms: D000123:Acetyltransferases / Q000235:genetics; D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D003105:Colombia; D018450:Disease Progression; D058068:Endophenotypes; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D009084:Mucopolysaccharidosis III / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D020125:Mutation, Missense; D010375:Pedigree; D055815:Young Adult
chemical_list: D000123:Acetyltransferases; C514442:HGSNAT protein, human
keywords: Mucopolysaccharidosis IIIC; disease progression; endophenotype; lysosomal storage disease; neurocognitive disorder