MUTATIONS OF THE IDURONATE-2-SULFATASE (IDS) GENE IN PATIENTS WITH HUNTER-SYNDROME (MUCOPOLYSACCHARIDOSIS-II)

Genomic DNA and cDNA from fibroblasts from nine unrelated German patie nts with X linked iduronate 2-sulfatase (IDS) deficiency showing varia ble clinical manifestation were screened for paint mutations and small structural aberrations. Direct sequencing revealed a splice mutation skipping exon A, one nonsense mutation, and five missense mutations co ncerning the exons B, F and I of the IDS gene. Several novel missense mutations were found: A68E, S426X, I485R, Q293H, and D478G. One of the point mutations eliminating a recognition site for the restriction en zyme MspI was used as a direct marker for a prenatal diagnosis. A rela tionship between type of mutation and clinical picture could not be re cognized. (C) 1994 Wiley-Liss, Inc.