2020
DOI: 10.1038/s41598-020-66099-2
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WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson’s Disease

Abstract: Wilson disease (WD) is one of the most prevalent genetic diseases with an estimated global carrier frequency of 1 in 90 and a prevalence of 1 in 30,000. The disease owes its genesis to Kinnier Wilson who described the disease, and is caused by accumulation of Copper (Cu) in various organs including the liver, central nervous system, cornea, kidney, joints and cardiac muscle which contribute to the characteristic clinical features of WD. A number of studies have reported genetic variants in the ATP7B gene from … Show more

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Cited by 24 publications
(26 citation statements)
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“…Wilson Disease is the most well-documented disorder of Cu toxicity and is an autosomal recessive disorder of Cu metabolism with an estimated global allele frequency of 1:90 [ 45 ]. This rare disease is caused by a mutation in the ATP7B gene [ 46 ] that is characterized by excessive Cu accumulation, primarily in the liver, but also in other tissues including the brain [ 47 ].…”
Section: Copper Excess and Consequences Of Copper Toxicity In Humamentioning
confidence: 99%
“…Wilson Disease is the most well-documented disorder of Cu toxicity and is an autosomal recessive disorder of Cu metabolism with an estimated global allele frequency of 1:90 [ 45 ]. This rare disease is caused by a mutation in the ATP7B gene [ 46 ] that is characterized by excessive Cu accumulation, primarily in the liver, but also in other tissues including the brain [ 47 ].…”
Section: Copper Excess and Consequences Of Copper Toxicity In Humamentioning
confidence: 99%
“…Since the first identification of variants in the ATP7B gene being responsible for WD nearly 30 years ago (5)(6)(7), more than 500 variants have been linked to development of the disease (8,9). A more recent study reviewed a total of 1458 unique variants in the ATP7B gene identified from previous literature and data resources (10). They were annotated using American College of Medical Genetics and Genomics and the Association for Molecular Pathology criteria and a total of 656 pathogenic or likely pathogenic variants were curated into their database (10).…”
Section: Introductionmentioning
confidence: 99%
“…rs762339422 (D2) displayed the most pronounced effect on expression. D2 has been observed in two Chinese Wilson disease patients without providing clear evidence for clinical relevance 36 and has been previously suggested to affect gene expression based on prediction 37 . However, since the expression repression was rather moderate, it is unlikely to be causative.…”
Section: Discussionmentioning
confidence: 87%