DNA‐based presymptomatic diagnosis of Wilson disease

Gaffney, Dairena; Walker, Judith S.; O'Donnell, J.; Fell, Gordon S.; O’Neill, Kieran; Park, R. H. R.; Russell, Robin

doi:10.1007/bf01799625

Cited by 14 publications

(4 citation statements)

References 16 publications

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“…Genetic testing is available at a few research laboratories. 45,46 The biochemical tests used to diagnose WD are shown in Table 3.…”

Section: Geneticsmentioning

confidence: 99%

Wilson Disease

El–Youssef

2003

Mayo Clinic Proceedings

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Wilson disease is a rare disorder of copper metabolism that results in accumulation of copper in the liver and subsequently in other organs, mainly the central nervous system and the kidneys. Advances in the diagnosis and treatment of Wilson disease are discussed, with the emphasis that this is a disease of children, adolescents, and young adults. The myriad manifestations of Wilson disease make its diagnosis dependent on a high index of suspicion, and determination of its genetic background is helping to elucidate the genotype-phenotype correlation and the diversity of presentations. Treatment of Wilson disease has progressed from chelation therapy using D-penicillamine and trientine to the more recent use of zinc and finally to the establishment of liver transplantation as an urgent but excellent modality for fulminant presentation. The evolution of Wilson disease from a uniformly fatal disease to an eminently treatable disease during the past century is an example of the remarkable advances of modern medicine.

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“…Genetic testing is available at a few research laboratories. 45,46 The biochemical tests used to diagnose WD are shown in Table 3.…”

Section: Geneticsmentioning

confidence: 99%

Wilson Disease

El–Youssef

2003

Mayo Clinic Proceedings

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“…Although this approach has been possible using linked genes, 31 its potential for diagnosis rather than research was realised after the cloning of the gene and the description of multi-allele microsatellite markers. 32 33 Gene tracking can be successfully applied, and is particularly useful in families where a newly diagnosed child has siblings who could be presymptomatic or unaVected.…”

Section: Genetic Investigation: Gene Trackingmentioning

confidence: 99%

Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring

Gaffney

2000

J Clin Pathol

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Wilson's disease, the most common inherited disorder of copper metabolism, is a recessive genetic condition. The clinical presentation of Wilson's disease is very variable. It is characterised by low serum copper and caeruloplasmin concentrations coupled with the pathological accumulation of copper in the tissues. However, there are diagnostic diYculties and these are discussed. The current value of DNA diagnosis, both in gene tracking in families or as applied to de novo cases, is examined. Wilson's disease can be treated successfully but treatment must be life long. Patients are best treated by specialist centres with experience and expertise in the condition. (J Clin Pathol 2000;53:807-812)

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“…To address this, the Medical Genetics and Metabolism Department at the National Children's Hospital (HNN) now provides molecular diagnoses for a group of conditions including Wilson disease (OMIM #277900). Molecular testing for early detection was implemented as a strategic measure to reduce morbidity and mortality . The project's goal was to optimize the benefits of molecular testing through extended familial cascade screening, genetic counseling, and reproductive planning…”

Section: Introductionmentioning

confidence: 99%

“…Molecular testing for early detection was implemented as a strategic measure to reduce morbidity and mortality. [12][13][14] The project's goal was to optimize the benefits of molecular testing through extended familial cascade screening, genetic counseling, and reproductive planning. 15 In this study, we characterize the phenotype and genotype of the Costa Rican pediatric population with WD who had molecular testing between 2010 and 2015 and compare the results with a previous report from our center to demonstrate the impact of strategic measures in the delivery of genetics services.…”

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confidence: 99%

Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

et al. 2020

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Introduction The prevalence of Wilson disease (WD) in Costa Rica is among the highest reported in the world, 4.9:100 000. Previous investigators have also described a burden of autosomal recessive conditions in this country. Genetic testing for WD began in 2010 as a strategy for earlier detection due to the country's high prevalence. Here we describe what we have learned about the genotype and phenotype of the Costa Rican pediatric population with WD. Methods We completed a retrospective review of medical records from pediatric individuals (<18 years of age) with molecular testing for ATP7B between 2010 and 2015. We documented phenotype and genotype for cases with WD as defined by the international scoring system. Results Thirty‐four WD cases from 28 families were included, 15 female and 19 male patients. The most frequent pathogenic variant in ATP7B was NM_000053:c.3809A>G, p.Asn1270Ser, with 58.8% of affected individuals homozygous for this variant. Age of diagnosis ranged from 1 to 17 years, with an average of 8.8 ± 3.6 years. All individuals who presented with acute liver failure (n = 6) were homozygous for the p.Asn1270Ser variant (Chi‐squared, P < .05). Discussion Molecular testing has facilitated the detection of presymptomatic patients with WD in Costa Rica. We hope that ongoing efforts in the delivery of clinical services lead to optimized molecular screening for WD and other genetic conditions in Costa Rica.

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DNA‐based presymptomatic diagnosis of Wilson disease

Cited by 14 publications

References 16 publications

Wilson Disease

Wilson Disease

Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring

Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

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