Genetics of Wilsons disease

Behari, Madhuri; Pardasani, Vibhor

doi:10.1016/j.parkreldis.2010.07.007

Cited by 44 publications

(29 citation statements)

References 70 publications

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“…The c.3207C>A substitution at exon 14 represents 35 to 50% of the WD alleles affected in the European population 6 . Its frequency is highest in Poland and eastern Germany and decreases to the western and to the southern European countries 9 .…”

Section: Discussionmentioning

confidence: 99%

“…The ATP7B protein is expressed most abundantly in the liver, however, it has also been demonstrated in the kidney, brain, lung, heart, mammary gland, and placenta 6 . In the hepatocytes, this protein delivers copper to apocaeruloplasmin and mediates the excretion of the cooper excess into bile [2][3][4] .…”

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confidence: 99%

“…Currently, there are records of at least 400 distinct disease-causing mutations in the ATP7B gene that can be associated with WD 8 , including missense, nonsense, deletions, insertions, splice site and point mutations. While most of these mutations are rare and only reported in single families, some are clearly more common, accounting for a larger number of WD cases 6 . In most ethnic groups, either one or a small number of ATP7B mutations are prevalent, followed by many other rare mutations.…”

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confidence: 99%

“…The lack of consensus in the literature regarding this issue could be explained by the observations that clinical manifestations of WD are heterogeneous even in patients carrying the same mutation. It is, therefore, hypothesized that other additional genetic and/or environmental factors could influence the phenotypes of WD, such as dietary cooper intake, metallothionein inducibility, the individual capacity to handle copper overload, the ApoE genotype, human prion gene polymorphism and mutations in COMMD1 6,17,[19][20][21][22] .…”

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confidence: 99%

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Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

Raskin

Muzzillo

et al. 2013

Arq. Neuro-Psiquiatr.

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OBJECTIVE: Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. METHODS: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. RESULTS: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. CONCLUSION: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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confidence: 99%

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Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

Raskin

Muzzillo

et al. 2013

Arq. Neuro-Psiquiatr.

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“…Over the past two decades, linkage analysis studies have identified one single locus situated in chromosome 13 (13q.14.3), and a mutation in the ATP7B gene 2,3 . The protein product of this gene is a copper and membrane-bound ATPase and plays a key role in the transportation and distribution of copper in the hepatocytes, synthesis of ceruloplasmin and biliary excretion of copper.…”

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Wilson's disease

Limongi

2013

Arq. Neuro-Psiquiatr.

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P rogressive lenticular degeneration, or Wilson's disease (WD), even though being a rare condition, has major relevance in the field of movement disorders for it constitutes the first example of progressive neurologic deterioration caused by a toxic mechanism as a result of biochemical abnormality 1 . In 1912, the British neurologist S. A. Kinnier Wilson described the main clinical and pathological features of the disease that now bears his name. Clinical manifestations generally begin in the second or the third decade of life, but the onset may occur later in life. Liver involvement is always present, but often asymptomatic. Neurologic manifestations are found in approximately half of the cases, and clinical-pathological correlation relating movement abnormalities and basal ganglia involvement has long been established since Wilson's first description. Clinical features include movement disorders (dystonia, chorea, tremor), dysarthria and rigidity, among others. Clinical manifestations can be heterogeneous and often misleading, thus making WD a condition of paramount importance in the differential diagnosis of several conditions presenting movement disorders.WD is inherited as an autosomal recessive disease and gene penetrance is virtually complete. Over the past two decades, linkage analysis studies have identified one single locus situated in chromosome 13 (13q.14.3), and a mutation in the ATP7B gene 2,3 . The protein product of this gene is a copper and membrane-bound ATPase and plays a key role in the transportation and distribution of copper in the hepatocytes, synthesis of ceruloplasmin and biliary excretion of copper. A defect in ATB7B results in progressive copper accumulation in the liver, central nervous system, kidneys and cornea. To the present day, more then 400 mutations in the ATP7B have been identified, but only a few have been found to be more prevalent and, importantly, variations have been observed according to ethnic background [4][5][6] . The study of frequency mutations is more challenging in countries with highly mixed populations, like the USA and Brazil.The . A total of 36 subjects with clinical diagnosis of WD were studied and followed-up at Clinical Hospital of the Federal University of Paraná, in Curitiba, Brazil. In 23 subjects, mutations in the ATP7B gene were studied. Fourteen distinct mutations were detected in at least one of the alleles in 23 out of the 36 WD patients. The c.3207C>A substitution at exon 14 was the most common mutation, with an allelic frequency of 37.1%, followed by the c.3402delC at exon 15, with an allelic frequency of 11.4%. These two different mutations account for 48.5% of the alleles studied, thereby indicating that these exons are important regions for detecting mutations in Southern Brazilian patients. The c.3207C>A is the most common mutation described in Europe and the c.3402delC is the most common mutation described for the general Brazilian population, with an allelic frequency of 30.8%. According to the authors, two mutations identified in this sam...

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Near‐Infrared Upconversion Chemodosimeter for In Vivo Detection of Cu²⁺ in Wilson Disease

et al. 2016

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Genetics of Wilsons disease

Cited by 44 publications

References 70 publications

Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

Wilson's disease

Near‐Infrared Upconversion Chemodosimeter for In Vivo Detection of Cu²⁺ in Wilson Disease

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Genetics of Wilsons disease

Cited by 44 publications

References 70 publications

Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

Wilson's disease

Near‐Infrared Upconversion Chemodosimeter for In Vivo Detection of Cu2+ in Wilson Disease

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Near‐Infrared Upconversion Chemodosimeter for In Vivo Detection of Cu²⁺ in Wilson Disease