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Mutations of the iduronate-2-sulfatase (IDS) gene in patients with hunter syndrome (mucopolysaccharidosis II)

✍ Scribed by Winnie Schröder; Karin Wulff; Manfred Wehnert; Günter Seidlitz; Falko H. Herrmann

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
351 KB
Volume
4
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Jurgen Horsr Genomic DNA and cDNA from fibroblasts from nine unrelated German patients with X-linked iduronate-2-sulfatase (IDS) deficiency showing variable clinical manifestation were screened for point mutations and small structural aberrations. Direct sequencing revealed a splice mutation skipping exon A, one nonsense mutation, and five missense mutations concerning 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 enzyme MspI was used as a direct marker for a prenatal diagnosis. A relationship between type of mutation and clinical picture could not be recognized. Q 1994 WiIey-Liss, I=.

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