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

de, Ricardo Schmitt; Raskin, Salmo; Muzzillo, Dominique Araújo; Deguti, Marta Mitiko; Cançado, Eduardo Luiz Rachid; Araújo, Thiago Ferreira de; Nakhle, Maria Cristina; Barbosa, Egberto Reis; Munhoz, Renato P.; Teive, Hélio Afonso Ghizoni

doi:10.1590/0004-282x20130078

Cited by 20 publications

(17 citation statements)

References 20 publications

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“…Several previous studies have revealed some WD patients with only one or without ATP7B mutation (5,7,8). The phenomenon could be explained by the fact that the mutation may be present in the promoter, untranslated regions or longrange regulatory regions (6,15).…”

Section: Discussionmentioning

confidence: 97%

“…In recent years, along with the development of molecular analysis, the diagnostic rate has greatly improved. However, the molecular diagnosis of WD is not feasible and is expensive in the clinical laboratory due to varied types of ATP7B gene mutations (7,8). According to past massive mutation screenings, there are some mutation hotspots depending on different ethnic groups and geographic location (9,10).…”

Section: Discussionmentioning

confidence: 99%

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Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China

Liu

Zhou

Guo

et al. 2015

Archives of Medical Research

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China

Liu

Zhou

Guo

et al. 2015

Archives of Medical Research

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“…In a previous study, Deguti et al found that the c.3402delC was the most common mutation, with an allelic frequency of 30.8%. The second most frequent mutation was the c.2123T>C, with an allelic frequency of 14.1%, whereas the c.3207C>A, the most common mutation found in the study by Bem et al, was absent in that population 7,8 . Testing for the ATP7B gene can be useful to augment clinical diagnosis of WD.…”

mentioning

confidence: 71%

“…The article by Bem, Raskin, Muzzilo et al (Wilson's disease in Southern Brazil: genotypephenotype correlation and description of two novel mutations in ATP7B gene) in this issue addresses the frequency of mutations in Southern Brazil in which a population of European ancestry predominates 7 . 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.…”

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confidence: 99%

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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“…The most common mutation of the ATP7B gene in Europe is p.His1069Gln at exon 14 (found in about 50%-80% of patients with WD), [15] in Brazil is p.His1069Gln and 3402delC at exon 15 with an allele frequency of 37.1% and 30.8%, respectively. [16,17] In Chinese patients, the p.Arg778Leu missense mutation at exon 8 is the most prevalent one with an allele frequency of 37.7%-55%. [18,19] It is also one of the most common mutations in Asian populations, including Korean (with an allele frequency of 37.9%), [20] Japanese (13.4%) [21] and Thai (10.52%).…”

Section: Original Articlementioning

confidence: 99%

Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson’s disease

Yuan

Yang

et al. 2015

World J Pediatr

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

Cited by 20 publications

References 20 publications

Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China

Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China

Wilson's disease

Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson’s disease

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