Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2)

✍ Scribed by WS Oetting; JM Gardner; JP Fryer; A Ching; D Durham-Pierre; RA King; MH Brilliant

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 104 KB
• Volume: 12
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1998)12:6<434::aid-humu15>3.0.co;2-a

✦ Synopsis

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.