Publication: Six novel ATP7B mutations in Thai patients with Wilson disease
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Issued Date
2011-03-01
Resource Type
ISSN
17697212
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2-s2.0-79952490422
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Mahidol University
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SCOPUS
Bibliographic Citation
European Journal of Medical Genetics. Vol.54, No.2 (2011), 103-107
Suggested Citation
Benjaporn Panichareon, Krailerk Taweechue, Wanna Thongnoppakhun, Monthikan Aksornworanart, Manop Pithukpakorn, Pa thai Yenchitsomanus, Chanin Limwongse, Thawornchai Limjindaporn Six novel ATP7B mutations in Thai patients with Wilson disease. European Journal of Medical Genetics. Vol.54, No.2 (2011), 103-107. doi:10.1016/j.ejmg.2010.10.008 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/11580
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Title
Six novel ATP7B mutations in Thai patients with Wilson disease
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Abstract
WD is an autosomal recessive disorder of copper transport resulting in excessive copper deposition in the liver and brain. It is caused by defects of ATP7B encoding a copper transporting P-type ATPase. To identify the mutations in ATP7B in Thai patients with WD, DHPLC analysis was applied to detect mutations and polymorphisms of the entire ATP7B gene in 19 Thai patients with WD. Mutations in ATP7B were identified in 14 of 19 patients: 2 homozygotes, 8 compound heterozygotes and 4 heterozygotes. Eighteen mutations distributed throughout the entire coding region of ATP7B gene including 11 missense, 3 nonsense, 1 splice-site, 1 deletion and 2 insertions. Of 18 different mutations identified, 6 were found to be novel. Twelve single nucleotide polymorphisms (SNPs) were also identified and two SNPs have not yet previously been reported. Segregation analysis using DHPLC analysis showed mutation transmission patterns within each family of Thai patients with WD. Mutations in ATP7B in Thai patients with WD are worth adding into the public database for genetic epidemiology and population genetics. © 2010 Elsevier Masson SAS.