<i>ATP7B</i> Gene Mutations in Croatian Patients with Wilson Disease

Ljubić, Hana; Kalauz, Miro; Telarović, Srđana; Ferenci, Péter; Ostojić, Rajko; Noli, Maria Cristina; Lepori, Maria Barbara; Hrstić, Irena; Vuković, Jurica; Premužić, Marina; Radić, Davor; Ravić, Katja Grubelić; Sertić, Jadranka; Merkler, Ana; Barišić, Ana; Loudianos, Georgios; Vucelić, Boris

doi:10.1089/gtmb.2015.0213

Cited by 11 publications

(6 citation statements)

References 26 publications

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“…Despite the biological rationale that the type of mutation in the DNA leads to a deformation in the protein, this observation is not linear in WD. In some studies, age at WD onset and type of clinical presentation did not show a significant correlation with ATP7B genotype [12,13] .…”

Section: Discussionmentioning

confidence: 91%

New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease

Sá

Pacheco

Figueredo

et al. 2022

European Journal of Case Reports in Internal Medicine

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We report the case of a 70-year-old man diagnosed with late-onset Wilson disease (WD) with mild neurological symptoms only and a new mutation in the ATP7B gene. A compound mutation of the ATP7B gene was found with the variant c.98T>C p(Met33Thr) in exon 2, in heterozygosis, and variant c.2224G>A (Val742Ile) in exon 8, in heterozygosis. Patient age should not be a determinant for excluding WD. Genetic sequencing is an important tool for the discovery of new genetic mutations.

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Section: Discussionmentioning

confidence: 91%

New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease

Sá

Pacheco

Figueredo

et al. 2022

European Journal of Case Reports in Internal Medicine

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“…Forbes et al [ 20 ] has given evidence for the effects of ATP7B mutations in severe neuropsychiatric deterioration. Ljubic et al [ 21 ] indicated that mutations in the P-domain interfered with catalytic phosphorylation. In addition, this mutation was compounded by the heterozygous mutation c.2866-2A > G located in the splice site, which can affect mRNA splicing [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease

et al. 2018

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BackgroundWilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. The disease has an onset in a childhood and result in a significant neurological impairment or require lifelong treatment. Another serious consequence of the disease is the development of liver damage and acute liver failure leading to liver transplant. The disorder is caused by mutations in the ATP7B gene, encoding a P-type copper transporting ATPase.Case presentationWe performed genetic analysis of three unrelated patients from three different Vietnamese families. These patients had clinical features such as numbness of hands and feet, vomiting, insomnia, palsy, liver failure and Kayser–Fleischer (K–F) rings and were diagnosed with Wilson disease in the Human Genetics Department, Vietnam National Children’s Hospital. The entire coding region and adjacent splice sites of ATP7B gene were amplified and sequenced by Sanger method. Sequencing data were analyzed and compared with the ATP7B gene sequence published in Ensembl (ENSG00000123191) by using BioEdit software to detect mutations.ConclusionsIn this study, five mutations in the ATP7B gene were found. Among of these, three mutations were novel: c.750_751insG (p.His251Alafs*19) in exon 2, c.2604delC (p.Pro868Profs*5) in exon 11, and c.3077 T > A (p.Phe1026Tyr) in exon 14. Our results of the mutations associated with Wilson disease might facilitate the development of effective treatment plans.Electronic supplementary materialThe online version of this article (10.1186/s12881-018-0619-4) contains supplementary material, which is available to authorized users.

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“…Wilson's disease (WD), also known as hepatolenticular degeneration, is an autosomal recessive disorder of copper metabolism caused by an ATP7B gene mutation 1 . WD results in a decrease in copper excretion in bile, which leads to the accumulation of copper in various organs, including the liver and brain, causing liver, and nerve damage, and mental symptoms 2 . While the clinical manifestations of WD patients involve multiple systems, liver disease is most prevalent, and is more common in younger children.…”

Section: Introductionmentioning

confidence: 99%

Differentially expressed lncRNAs in liver tissues of TX mice with hepatolenticular degeneration

Zhang

Xie

et al. 2021

Sci Rep

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Wilson's Disease (WD), an ATP7B-mutated inherited disease that affects copper transport, is characterised by liver and nervous system manifestations. Long non-coding (ln-c) RNAs are widely involved in almost all physiological and pathological processes in the body, and are associated with numerous diseases. The present study aimed to elucidate the lncRNA-mRNA regulation network in a TX WD mouse model using RNA sequencing (RNA-seq). lncRNA expression profiles were screened using RNA-seq and real-time polymerase chain reaction, and differentially expressed lncRNAs and mRNAs were identified. To analyse the biological functions and pathways for the differentially expressed mRNAs, gene ontology and pathway enrichment analyses were performed. A significantly correlated lncRNA-mRNA relationship pair was calculated by CNC analysis to construct differential lncRNA and mRNA co-expression networks. A total of 2564 significantly up-regulated and 1052 down-regulated lncRNAs, and 1576 up-regulated and 297 down-regulated mRNAs, were identified. These genes were found to be associated with key processes such as apoptosis, and KEGG analysis revealed enrichment in the drug metabolism-cytochrome P450 pathway, PPAR signalling pathway, Notch signalling pathway, and MAPK signalling pathway. The identified differential lncRNAs may be involved in the pathogenesis and development of WD liver injury.

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ATP7B Gene Mutations in Croatian Patients with Wilson Disease

Abstract: Clinical diagnosis of WD was confirmed in 59 patients by detecting mutations on both ATP7B alleles. The age at onset of WD and the type of WD clinical presentation showed no significant correlation with the ATP7B genotype.

Cited by 11 publications

References 26 publications

New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease

New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease

Differentially expressed lncRNAs in liver tissues of TX mice with hepatolenticular degeneration

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