Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)

Susanna Bunge, Cordula Steglich, Cornelia Zuther, Michael Beck, C. Phillip Morris, Eberhard Schwinger, Albert Schinzel, John J. Hopwood, Andreas Gal

Research output: Contribution to journalArticlepeer-review

48 Citations (Scopus)

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 amlno 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.

Original languageEnglish
Pages (from-to)1871-1875
Number of pages5
JournalHuman molecular genetics
Volume2
Issue number11
DOIs
Publication statusPublished or Issued - Nov 1993

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this