scholarly journals Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease

2019 ◽  
Vol 7 (5) ◽  
pp. e649
Author(s):  
Zhiling Qian ◽  
Xiongwei Cui ◽  
Yunli Huang ◽  
Yanmin Liu ◽  
Ning Li ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Chinese Patients ◽  
Atp7b Gene ◽  
Novel Mutations

Novel mutations of ATP7B gene in Wilson's disease patients of South Indian cohort

Meta Gene ◽  
2017 ◽  
Vol 14 ◽  
pp. 114-118
Author(s):  
Advithi Rangaraju ◽  
Kavitha Anbarasu ◽  
M.S. Sridhar ◽  
Sharat Reddy Putta ◽  
Sachin Daga
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Atp7b Gene ◽  
Novel Mutations ◽  
South Indian

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

2015 ◽  
Vol 11 (3) ◽  
pp. 255-260 ◽  
Author(s):  
Zhe-Feng Yuan ◽  
Wei Wu ◽  
Yong-Lin Yu ◽  
Jue Shen ◽  
Shan-Shan Mao ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Han Chinese ◽  
Atp7b Gene ◽  
Novel Mutations ◽  
Chinese Families

scholarly journals Novel mutations in ATP7B gene of Wilson's disease in Iranian patients

2013 ◽  
Vol 1 (1) ◽  
pp. 43-46
Author(s):  
Iradj Maleki ◽  
Mohammad Reza Zali ◽  
Hossein Najm-Abadi ◽  
◽  
◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Atp7b Gene ◽  
Novel Mutations ◽  
Iranian Patients

Identification of two novel mutations in the ATP7B gene that cause Wilson’s disease

2017 ◽  
Vol 13 (4) ◽  
pp. 387-391
Author(s):  
Hong-Wen Zhu ◽  
Zhong-Bin Tao ◽  
Gang Su ◽  
Qiao-Ying Jin ◽  
Liang-Tao Zhao ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Atp7b Gene ◽  
Novel Mutations

Mutations in exon of ATP7B gene in Chinese patients with Wilson's disease

2010 ◽  
Vol 30 (8) ◽  
pp. 830-833
Author(s):  
Lin ZHU ◽  
Ping LIU ◽  
Bin XU ◽  
Yuan-cheng BAO ◽  
Yong-nan FU ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Chinese Patients ◽  
Atp7b Gene

scholarly journals Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 336
Author(s):  
Guo-Min Yang ◽  
Rou-Min Wang ◽  
Nan Xia ◽  
Zi-Wei Zheng ◽  
Yi Dong ◽  
...  
Keyword(s):  
Geographical Distribution ◽  
Founder Effect ◽  
Wilson’S Disease ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Chinese Patients ◽  
Mainland Chinese ◽  
Pathogenic Variants ◽  
Specific Distribution ◽  
The Common

Wilson’s disease (WD) is an autosomal recessive disorder caused by ATP7B pathogenic variants. This study aimed to show the geographical distribution and haplotype spectrum of three prevalent pathogenic variants (p.R778L, p.P992L, p.T935M) in mainland Chinese population and clarify whether the founder effect may account for their origins. We firstly summarized the frequency and geographical distribution of p.R778L, p.P992L and p.T935M in 715 WD patients. Then, to construct haplotypes associated with the three variants, Sanger sequencing and microsatellite typing at three dinucleotide-repeat markers (D13S314, D13S301, D13S316) flanking the ATP7B gene were performed in 102 WD families. An obvious regional-specific distribution feature was found in p.T935M. Linkage disequilibrium at the three markers was shown in all the three variants and we found the common haplotypes specific for p.R778L, p.P992L and p.T935M respectively, represented successively by 10-7-7, 10-9-5 and 12-4-8, which all exhibited great significance vs. the control chromosomes (p < 0.01). Meanwhile, haplotypes for the three variants differed from the studies in other regions to some extent. The common haplotypes we found indicate that three prevalent pathogenic variants emerge due to the founder effect. Furthermore, the study contributes to expand our knowledge of the genetic diversity of WD from a cross-regional perspective.

scholarly journals Multiplex PCR based sequencing of ATP7B gene in Wilson’s disease - A preliminary study

2021 ◽  
Author(s):  
Rekha Aaron ◽  
Aaron Chapla ◽  
Sumita Danda ◽  
Uday Zachariah ◽  
C.E. Eapen ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Atp7b Gene ◽  
Preliminary Study

scholarly journals GENETIC DIAGNOSTICS AND CLINICAL FEATURES OF WILSON’S DISEASE IN CHILDREN

2020 ◽  
Vol 2 ◽  
pp. 3-9
Author(s):  
Ivanna Haiboniuk ◽  
Marta Dats-Opoka ◽  
Halyna Makukh ◽  
Yaryna Boyko ◽  
Igor Kiselyk
Keyword(s):  
Nervous System ◽  
Genetic Analysis ◽  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Wilson's Disease ◽  
Hereditary Diseases ◽  
Genetic Diagnostics ◽  
Atp7b Gene ◽  
Hepatobiliary System ◽  
Child Age

A disorder of copper metabolism at Wilson’s disease (WD), conditioned by a mutation of adenosine thriphospate P-type gene (ATP7B), results in irreversible changes in the liver and in the nervous system. Mortality is high at WD, but it is one of hereditary diseases, well subjected to the therapy. The disease is manifested in the early age, but its clinical course in children is symptomless that essentially complicates diagnostics. A single reliable method is genetic analysis for revealing mutations in ATP7B gene. The aim of the work was to analyze clinical manifestations and course of Wilson’s disease cases, genetically verified in children by detecting mutations of ATP7B gene. The research group included children of 6-17 years old with different injury degrees of the hepatobiliary system. According to results of the molecular-genetic analysis, the most spread allele variant of ATP7B gene (H1069Q) in Europe was confirmed in 10 patients of child age, including 4 cases of homozygosity. In 10 cases of the confirmed diagnosis of Wilson’s disease in child age in 100% (in all 10) of persons, a clinical manifestation was characterized by disorders from the hepatobiliary system, and only in 1 (10 %) – changes from the nervous system. At raising the level of transaminase in children, even at the normal bilirubin level and negative tests for viral hepatitis, it is recommended to carry out genetic testing for Wilson’s disease

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