ArticleWorld journal of pediatrics : WJP2013
Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.
Article in World journal of pediatrics : WJP, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.BMC gastroenterology · 2021Article
- Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.BMC medical genetics · 2018Article
- Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.World journal of pediatrics : WJP · 2015Article
- Characterization of timed changes in hepatic copper concentrations, methionine metabolism, gene expression, and global DNA methylation in the Jackson toxic milk mouse model of Wilson disease.International journal of molecular sciences · 2014Article
- The Pragmatic Treatment of Wilson's Disease.Movement disorders clinical practice · 2014Review
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Authors and funding
5 authors at 1 institution in 1 country.
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Abstract
backgroundWilson disease (WND), also called hepatolenticular degeneration, is an autosomal recessive genetic disorder in which copper abnormally accumulates in several organs. WND arises from the defective ATP7B gene, which encodes a copper transporting P-type ATPase.
methodsThe molecular defects in 11 unrelated Chinese WND patients aged from 3 to 12 years were investigated. The diagnosis of these patients was based on typical clinical symptoms and laboratory testing results. All 21 exons and exon-intron boundaries of the ATP7B gene were amplified by polymerase chain reaction from the genomic DNA of the patients and then analyzed by direct sequencing. One hundred healthy subjects served as controls to exclude gene polymorphism.
resultsIn one novel (c.3605 C>G) and nine recurrent mutations of ATP7B identified, there were eight missense mutations, one splice-site mutation, and one nonsense mutation. The novel c.3605 C>G mutation resulted in the substitution of alanine by glycine at amino acid position 1202 (p.Ala1202Gly). The most frequent ATP7B mutation was c.2333 G>T (p.Arg778Leu), followed by c.2975 C>T (p.Pro992Leu), which accounted for 63.6% of the WND mutated alleles.
conclusionsThe novel c.3605 C>G mutation in. ATP7B is one of the molecular mechanisms of WND.
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