title: Mutation analysis of Wilson disease in Taiwan and description of six new mutations.
abstract: Wilson disease is an autosomal recessive disorder of copper metabolism. Mutation screening in Wilson disease has led to the detection of at least 89 disease-specific mutations. Some mutations appear to be population specific, while others are common to many populations. In this study, 38 Taiwanese patients with Wilson disease were screened using single-strand conformation polymorphism analysis, followed by direct DNA sequencing. We found 12 different mutations, six of which were novel. All our detected mutations were found to be in eight exons. Four mutations in three loci (Arg778Gln, Arg778Leu, Gly943Asp, and Pro992Leu) accounted for about 58% of the mutant alleles we detected. Using an RNA transcriptional assay, we confirmed that both of our detected splice-site mutations resulted in exon skipping.
authors.affiliation: Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan. chchai@hpd.cmch.org.tw
authors.forename: C H
authors.initials: CH
authors.lastname: Tsai
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
authors.forename: J Y
authors.initials: JY
authors.lastname: Wu
authors.forename: J G
authors.initials: JG
authors.lastname: Chang
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
authors.forename: S P
authors.initials: SP
authors.lastname: Lin
authors.forename: C F
authors.initials: CF
authors.lastname: Yang
authors.forename: Y J
authors.initials: YJ
authors.lastname: Jong
authors.forename: M C
authors.initials: MC
authors.lastname: Lo
mesh_terms: D000483:Alleles; D017398:Alternative Splicing / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000378:metabolism; D001224:Aspartic Acid / Q000378:metabolism; D004247:DNA / Q000097:blood; D004252:DNA Mutational Analysis / Q000379:methods; D005973:Glutamine / Q000378:metabolism; D005998:Glycine / Q000378:metabolism; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000378:metabolism; D007962:Leukocytes / Q000737:chemistry; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D011392:Proline / Q000378:metabolism; D013624:Taiwan
chemical_list: D005973:Glutamine; D001224:Aspartic Acid; D004247:DNA; D001120:Arginine; D011392:Proline; D007930:Leucine; D005998:Glycine