Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome

Invest Clin. 2014 Dec;55(4):365-70.


Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes catalyzing the degradation of glycosaminoglycans. Mucopoly-saccharidosis I can present a wide range of phenotypic characteristics with three major recognized clinical entities: Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression. These are caused by the deficiency or absence of alpha-L-iduronidase, essential to the metabolism of both dermatan and heparan sulfate, and it is encoded by the lDUA gene. We report the case of a 34-year-old male patient with enzymatic deficiency of alpha-L-iduronidase, accumulation of its substrate and a previously unreported mutation in the IDUA gene that developed a phenotype of Scheie syndrome.

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Dermatan Sulfate / urine
  • Disease Progression
  • Exons / genetics
  • Glycosaminoglycans / metabolism
  • Hand Deformities, Acquired / genetics
  • Heterozygote
  • Humans
  • Iduronidase / genetics*
  • Introns / genetics
  • Magnetic Resonance Imaging
  • Male
  • Mucopolysaccharidosis I / genetics*
  • Mucopolysaccharidosis I / urine
  • Mutation, Missense*
  • Phenotype
  • Point Mutation*
  • Sequence Deletion
  • Spinal Cord Compression / etiology
  • Spinal Cord Compression / pathology
  • Symptom Assessment


  • Glycosaminoglycans
  • Dermatan Sulfate
  • Iduronidase