scholarly journals Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication

2010 ◽  
Vol 2 (1) ◽  
Author(s):  
Abdul Khaliq Naveed ◽  
Asifa Majeed ◽  
Sumreena Mansoor
Keyword(s):  
Wilson Disease ◽  
Novel Mutation ◽  
Neurological Complication ◽  
Gene Mutations ◽  
Atp7b Gene

scholarly journals A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 123
Author(s):  
Cigdem Yuce Kahraman ◽  
Ali Islek ◽  
Abdulgani Tatar ◽  
Özlem Özdemir ◽  
Adil Mardinglu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous ◽  
Atp7b Gene ◽  
Loss Of Function ◽  
Clinical Presentations ◽  
The Family ◽  
The Brain

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.

scholarly journals A Case Report and Literature Review of Wilson Disease

2020 ◽  
Vol 4 (3) ◽  
Author(s):  
Panpan Chen ◽  
Yingying Zhang ◽  
Linqing Qiu ◽  
Xinxin Yu
Keyword(s):  
Wilson Disease ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Hereditary Disease ◽  
Abnormal Liver Function ◽  
Atp7b Gene ◽  
Literature Reference ◽  
Urinary Copper

To investigate the clinical characteristics, auxiliary examination and treatment of Wilson’s disease(WD). The clinical data of a child with WD were summarized and analyzed comprehensively in conjunction with the literature reference. WD is a hereditary disease with a large age span, diverse early symptoms, high misdiagnosis rate, abnormal liver function, decreased ceruloplasmin, increased urinary copper, K-F rings, ATP7B gene mutation, ATP7B gene mutations, and abnormalities in abdominal and cranial brain imaging, which can be clearly diagnosed and require lifelong treatment. WD can be diagnosed according to the clinical manifestations and auxiliary examination to reduce misdiagnosis. The timely diagnosis and treatment will improve the prognosis the quality of life.

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease

2008 ◽  
Vol 73 (5) ◽  
pp. 441-452 ◽  
Author(s):  
L Gojová ◽  
E Jansová ◽  
M Külm ◽  
S Pouchlá ◽  
L Kozák
Keyword(s):  
Wilson Disease ◽  
Gene Mutations ◽  
Atp7b Gene ◽  
Novel Approach ◽  
Genotyping Microarray

PO19-WE-15 Molecular study of ATP7B gene mutations in Thai patients with Wilson disease

2009 ◽  
Vol 285 ◽  
pp. S269
Author(s):  
K. Taweechue ◽  
B. Panichareon ◽  
W. Thongnoppakhun ◽  
P. Yenchitsomanus ◽  
C. Limwongse
Keyword(s):  
Wilson Disease ◽  
Gene Mutations ◽  
Molecular Study ◽  
Atp7b Gene

ATP7B Gene Mutations in Croatian Patients with Wilson Disease

2016 ◽  
Vol 20 (3) ◽  
pp. 112-117 ◽  
Author(s):  
Hana Ljubić ◽  
Mirjana Kalauz ◽  
Srđana Telarović ◽  
Peter Ferenci ◽  
Rajko Ostojić ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Gene Mutations ◽  
Atp7b Gene

New novel mutation of the ATP7B gene in a family with Wilson disease

2012 ◽  
Vol 313 (1-2) ◽  
pp. 129-131 ◽  
Author(s):  
Jun-Young Lee ◽  
Young-Hyun Kim ◽  
Tae-Woo Kim ◽  
Sun-Young Oh ◽  
Dal-Sik Kim ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Novel Mutation ◽  
Atp7b Gene ◽  
New Novel

scholarly journals Allele Dropout in PCR-Based Diagnosis of Wilson Disease: Mechanisms and Solutions

2006 ◽  
Vol 52 (3) ◽  
pp. 517-520 ◽  
Author(s):  
Ching-Wan Lam ◽  
Chloe M Mak
Keyword(s):  
Wilson Disease ◽  
Chinese Population ◽  
Novel Mutation ◽  
Hong Kong Chinese ◽  
Atp7b Gene ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Direct Dna Sequencing ◽  
Allele Dropout ◽  
Disease Mechanisms

Abstract Background: We investigated the mechanisms leading to allele dropout—the nonamplification of 1 of the alleles—in PCR-based diagnosis of Wilson disease (WD). Methods: We extracted genomic DNA from blood samples from 6 WD patients (P1–P6) with allele dropouts detected in a previous study of WD in a Hong Kong Chinese population. We amplified the ATP7B gene by PCR and performed direct DNA sequencing of all exons of the ATP7B gene. To support the proposed mechanism of allele dropout, we used proofreading DNA polymerase, primer design avoiding single-nucleotide polymorphism sites, and duplex PCR. Results: Patients P1–P4 were all apparently homozygous for a known disease-causing mutation, c.2975C>T (p.P992L) in exon 13. Patient P5 was apparently homozygous for a novel mutation, c.2524G>A, and patient P6 was apparently homozygous for another known mutation, c.522_523insA (p.K175K-fs). In all cases, we determined that the patients were actually heterozygous for these mutations. Conclusion: Our results confirm that allele dropout is the mechanism causing apparent homozygosity of heterozygous mutations in these WD patients.

Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations

2010 ◽  
Vol 411 (17-18) ◽  
pp. 1223-1231 ◽  
Author(s):  
Chin-Wen Lin ◽  
Tze-Kiong Er ◽  
Fu-Jen Tsai ◽  
Ta-Chi Liu ◽  
Pang-Yin Shin ◽  
...  
Keyword(s):  
High Resolution ◽  
Wilson Disease ◽  
High Resolution Melting ◽  
Gene Mutations ◽  
Atp7b Gene ◽  
Melting Method

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease

2011 ◽  
Vol 11 (11) ◽  
pp. 890-894 ◽  
Author(s):  
Narges Zali ◽  
Seyed Reza Mohebbi ◽  
Sahar Esteghamat ◽  
Mohsen Chiani ◽  
Mahdi Montazer Haghighi ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Gene Mutations ◽  
Atp7b Gene ◽  
Iranian Patients

Correlation of ATP7B gene mutations with clinical phenotype and radiological features in Indian Wilson disease patients

2021 ◽  
Author(s):  
Jasodhara Chaudhuri ◽  
Samar Biswas ◽  
Goutam Gangopadhyay ◽  
Tamoghna Biswas ◽  
Jyotishka Datta ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Clinical Phenotype ◽  
Gene Mutations ◽  
Atp7b Gene ◽  
Radiological Features
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