Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5906351 | Gene | 2013 | 5 Pages |
Abstract
Hunter disease or mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disorder caused by the deficit of the enzyme iduronate-2-sulfatase (IDS), involved in the catabolism of the glycosaminoglycans heparan and dermatan sulfate. Our aim was to search for molecular defects in the promoter region of the IDS gene in patients with previous biochemical diagnosis of MPS II and after we sequenced the whole IDS coding region and the exon/intron boundaries without detecting any pathogenic mutations. Screening of the promoter region of four patients detected in two of them a 178Â bp deletion and in the other two a single nucleotide substitution 818Â bp upstream of the coding region. The latter had never been described before in MPS II patients and it turned out to be a polymorphism. Our experience suggests that MPS II patients with no mutations detected in the IDS coding region should be screened in the promoter region of the gene. Findings will hopefully help to clarify the relationship between genotype and phenotype and will be useful for the correct molecular diagnosis of Hunter patients and the identification of female carriers, the latter particularly important for genetic counseling.
Keywords
MPS IIkilobase(s) or 1000 bpμg/mlnmolU/mlPMOLGAGsIDSμLDMEMRPMmRNAcDNADNA complementary to RNADulbecco's modified Eagle MediumMucopolysaccharidosis type IIIduronate-2-sulfataseMutation analysisbase pairsMindeletionminutesDELmessenger ribonucleic acidhoursCentimetersHunter syndromeprotUTR یا untranslated regions Promoter regionuntranslated regionMucopolysaccharidosismillilitersmilligramsMPsNucleotidespolymerase chain reactionPCRSingle Nucleotide Polymorphism DatabaseProteinrotation per minuteGlycosaminoglycans
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Biochemistry, Genetics and Molecular Biology
Genetics
Authors
Ana Carolina Brusius-Facchin, Luiza Abrahão, Ida Vanessa Doederlein Schwartz, Charles Marques Lourenço, Emerson Santana Santos, Alessandra Zanetti, Rosella Tomanin, Maurizio Scarpa, Roberto Giugliani, Sandra Leistner-Segal,