文章基本信息

标题：Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type {II} (Hunter syndrome)
作者：H. Amartino ; R. Ceci ; F. Masllorens 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2014
卷号：1
页码：401-406
DOI：10.1016/j.ymgmr.2014.08.006
出版社：Elsevier B.V.
摘要：Abstract Mucopolysaccharidosis type {II} (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human {IDS} gene is located in chromosome Xq28. This is the first report of genotype and phenotype characterization of 49 Hunter patients from 40 families of Argentina. Thirty different alleles have been identified, and 57% were novel. The frequency of de novo mutations was 10%. Overall, the percentage of private mutations in our series was 75%.
关键词：Genetic testing; Genotype–phenotype correlation; Hunter syndrome; Lysosomal storage disorder; Mucopolysaccharidosis type II