title: [Genetic mutations and the relationship with clinical phenotype in patients with mucopolysaccharidosis type I in northeast Mexico].
abstract: BACKGROUND
  The mutations found in the IDUA gene depend on racial and genetic background. The aim of this paper is to determine the mutations of the IDUA gene in patients with MPS I in the Northeast of Mexico and the relationship with phenotype.
  
  
  RESULTS
  Molecular studies were performed in seven patients from Nuevo Leon with MPS I. Five patients had Hurler-Scheie phenotype and two had Hurler phenotype. Four patients (57.1%) had the mutation p.W402X, and two patients (28.5%) had the mutation p.533R, which are both common mutations found in MPS I. Three patients had a novel mutation p.180Ser, so the relationship phenotype/genotype is unknown. Six patients (85.7%) were heterozygotes and one (14.2%) was homozygote. There was a good phenotype/genotype relationship in patients with previously described mutations and only in one patient the genotype had no correlation with the expected phenotype.
  
  
  CONCLUSIONS
  The most common mutation in these patients was p.W402X. The mutation p.180Ser has not been listed as a pathogenic mutation or as polymorphism in the data base of the IDUA gene. There was a good phenotype/genotype relationship.
authors.affiliation: Servicio de Pediatría, Unidad Médica de Alta Especialidad (UMAE) n.o 25, Centro Médico Nacional del Noreste, Monterrey, Nuevo León.
authors.forename: Ana Laura
authors.initials: AL
authors.lastname: Sánchez Suárez
authors.affiliation: Servicio de Pediatría, Unidad Médica de Alta Especialidad (UMAE) n.o 25, Centro Médico Nacional del Noreste, Monterrey, Nuevo León.
authors.forename: Luz María
authors.initials: LM
authors.lastname: Sánchez Sánchez
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000235:genetics; D008297:Male; D008800:Mexico; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011446:Prospective Studies
chemical_list: D007068:Iduronidase