Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients

• Published in: Human mutation 1998, Vol.12 (6), p.433-433
• Main Authors: Karsten, Stanislav L., Voskoboeva, Elena, Carlberg, Britt-Marie, Kleijer, Wim J., Tönnesen, T, Pettersson, Ulf, Bondeson, Marie-Louise
• Format: Article
• Language: English
• Subjects: Hunter syndrome; iduronate-2-sulfatase; MPSII; mutation
• ISSN: 1059-7794; 1098-1004
• DOI: 10.1002/(SICI)1098-1004(1998)12:6<433::AID-HUMU12>3.0.CO;2-M

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.