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© 1993 Oxford University Press

RESEARCH-ARTICLE

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

Susanna Bunge*, Cordula Steglich, Cornelia Zuther, Michael Beck1, C. Phillip Morris2, Eberhard Schwinger, Albert Schinzel3, John J. Hopwood2 and Andreas Gal

Institut fur Humangenetik, Mediznische Universität, Ratzeburger Allee 160 D-23538 Lübeck 1Kinderklinik der Universitât D-55101 Maiaz, Germany 2Lysosornal Diseases Research Unit, Department of Chemical Pathology, Adelaide Children's Hospital North Adetaide, Australia 3Institut für medizinische Genetik der Universität CH-8001 Zünch, Switzerland

*To whom correspondence should be addressed

Received July 7, 1993; Revised August 18, 1993; Accepted August 18, 1993

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.


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