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Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients
Author(s) -
Karsten Stanislav L.,
Voskoboeva Elena,
Carlberg BrittMarie,
Kleijer Wim J.,
Tönnesen T,
Pettersson Ulf,
Bondeson MarieLouise
Publication year - 1998
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/(sici)1098-1004(1998)12:6<433::aid-humu12>3.0.co;2-m
Subject(s) - mucopolysaccharidosis type ii , biology , hunter syndrome , missense mutation , genetics , nonsense mutation , locus (genetics) , gene , mucopolysaccharidosis , microbiology and biotechnology , mutation , disease , enzyme replacement therapy , medicine , biochemistry
Hunter syndrome is an X‐linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate‐2‐sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total of 19 unrelated MPS II patients of different ethnic origin and identified 19 different IDS mutations, 9 of which were novel and unique. SSCP analysis followed by DNA sequencing revealed four novel missense mutations: S143F, associated with the 562C→T polymorphism, C184W, D269V and Y348H. Two novel nonsense mutations were found: Y103X (433C→A) and Y234X (826C→G). In two patients two novel minor insertions (421insA and 499insA) were identified. In one patient a complete IDS deletion was found, extending from locus DXS1185 to locus DXS466. © 1998 Wiley‐Liss, Inc.