title: Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.
abstract: Wilson disease (WD) is the most common disorder resulting in hepatic copper overload. A similar form of copper-associated cirrhosis caused by mutations of the canine copper toxicosis MURR1 gene is also observed in Bedlington terriers. Recent studies indicate that MURR1 might influence human copper metabolism and the clinical presentations of WD. However, the correlation between the MURR1 gene and the Chinese patients with WD has not been reported. In the present study, all three exons of the MURR1 gene including the intron-exon boundaries were directly sequenced in 120 unrelated healthy Chinese and 218 unrelated Chinese patients with WD. No mutations were detected in coding and splice site sequence in the human MURR1 gene. A novel polymorphism 3'+119T-->A in the 3' untranslated region (UTR) was identified in three healthy individuals and four patients with two disease-causing mutations in the ATP7B gene and a great diversity of clinical presentations. Of the ATP7B mutations reported here, Gly1268Arg is a novel one. Also, the previously described nucleotide change IVS2+63C-->G was detected in 31.66% of normal chromosomes and 26.15% of WD chromosomes. The results have indicated that there is no correlation between MURR1 and WD in the Chinese population.
authors.affiliation: Department of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, People's Republic of China. zhiyingwu67@yahoo.com
authors.forename: Zhi-Ying
authors.initials: ZY
authors.lastname: Wu
authors.forename: Gui-Xian
authors.initials: GX
authors.lastname: Zhao
authors.forename: Wan-Jin
authors.initials: WJ
authors.lastname: Chen
authors.forename: Ning
authors.initials: N
authors.lastname: Wang
authors.forename: Bo
authors.initials: B
authors.lastname: Wan
authors.forename: Min-Ting
authors.initials: MT
authors.lastname: Lin
authors.forename: Shen-Xing
authors.initials: SX
authors.lastname: Murong
authors.forename: Long
authors.initials: L
authors.lastname: Yu
mesh_terms: D020413:3' Untranslated Regions; D048868:Adaptor Proteins, Signal Transducing; D000251:Adenosine Triphosphatases / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D002352:Carrier Proteins; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics; D002681:China / Q000208:ethnology; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D005091:Exons; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D048868:Adaptor Proteins, Signal Transducing; C480519:COMMD1 protein, human; D002352:Carrier Proteins; D027682:Cation Transport Proteins; D011506:Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases