title: 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.
abstract: 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.
authors.affiliation: University of Zulia, Maracaibo, Venezuela. wilmerdelgado16@gmail.com
authors.forename: Wilmer N
authors.initials: WN
authors.lastname: Delgado Luengo
authors.forename: Luis E
authors.initials: LE
authors.lastname: Miranda Contreras
authors.forename: Carlos J
authors.initials: CJ
authors.lastname: Chávez
authors.forename: Ernesto
authors.initials: E
authors.lastname: Solis-Añez
authors.forename: Francisco
authors.initials: F
authors.lastname: Cammarata-Scalisi
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D003871:Dermatan Sulfate / Q000652:urine; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D006025:Glycosaminoglycans / Q000378:metabolism; D006227:Hand Deformities, Acquired / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007068:Iduronidase / Q000235:genetics*; D007438:Introns / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008059:Mucopolysaccharidosis I / Q000235:genetics* / Q000652:urine; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation; D017384:Sequence Deletion; D013117:Spinal Cord Compression / Q000209:etiology / Q000473:pathology; D063189:Symptom Assessment
chemical_list: D006025:Glycosaminoglycans; D003871:Dermatan Sulfate; D007068:Iduronidase