Premium
Mutations of the iduronate‐2‐sulfatase (IDS) gene in patients with hunter syndrome (mucopolysaccharidosis II)
Author(s) -
Schröder Winnie,
Wulff Karin,
Wehnert Manfred,
Seidlitz Günter,
Herrmann Falko H.
Publication year - 1994
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380040206
Subject(s) - hunter syndrome , missense mutation , biology , mucopolysaccharidosis type ii , nonsense mutation , genetics , exon , point mutation , mutation , exon skipping , gene , mucopolysaccharidosis , microbiology and biotechnology , splice site mutation , alternative splicing , enzyme replacement therapy , disease , medicine , biochemistry
Abstract 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. © 1994 Wiley‐Liss, Inc.