title: Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
abstract: Mutations of the iduronate-2-sulfatase gene were identified in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Together with another 10 cases reported by us earlier it emerges that about 20% of the patients have deletions of the whole gene or other major structural alterations. One, two or three base pair deletions are found in about 23% of the cases while the remaining about 57% carry point mutations predicting amino acid replacement, premature termination of translation, or aberrant splicing. Molecular analysis of mRNA in splice site mutants showed that these latter defects frequently resulted in use of cryptic splice sites in exons or introns. 62% of the small deletions and point mutations have occurred in 3 of the 9 iduronate-2-sulfatase gene exons. Knowledge of the primary genetic defect allows fast and reliable carrier detection and prenatal diagnosis as well as insight into the relationship between genotype and phenotype.
authors.affiliation: Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Bunge
authors.forename: C
authors.initials: C
authors.lastname: Steglich
authors.forename: C
authors.initials: C
authors.lastname: Zuther
authors.forename: M
authors.initials: M
authors.lastname: Beck
authors.forename: C P
authors.initials: CP
authors.lastname: Morris
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
authors.forename: J J
authors.initials: JJ
authors.lastname: Hopwood
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D017931:DNA Primers; D005260:Female; D005838:Genotype; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000201:enzymology* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D003062:Codon; D017931:DNA Primers; D007066:Iduronate Sulfatase