ArticleJournal of clinical laboratory analysis2022
Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.
Article in Journal of clinical laboratory analysis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.Biochemical genetics · 2025Pooled it
- APASL clinical practice guidance: the diagnosis and management of patients with Wilson's disease.Hepatology international · 2026Article
- The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study.Orphanet journal of rare diseases · 2026Article
- Wilson disease associated with a novel variant in theFrontiers in neurology · 2026Article
- Recent advances in research on high-frequency mutations in the ATP7B gene associated with Wilson disease in the Chinese population: from genetic evolution to precision medicine.Frontiers in molecular biosciences · 2026Review
- Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Spectrum and classification ofSaudi medical journal · 2025Article
- Clinical and Molecular Analysis ofSultan Qaboos University medical journal · 2025Article
- Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.Biomarker insights · 2024Article
- Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.Journal of clinical laboratory analysis · 2022Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
objectivesWilson disease (WD) is a rare autosomal recessive genetic disorder associated with various mutations in the ATP7B gene and leads to significant disability or death if untreated. Early diagnosis and proper therapy usually predict a good prognosis, especially in pre-symptomatic WD. Genetic testing provides an accurate and effective diagnostic method for the early diagnosis of WD.
methodsWe recruited 18 clinically diagnosed WD patients from 16 unrelated families and two independent individuals. The next-generation sequencing of the ATP7B gene was performed. The 293T cell lines were divided into wild-type (WT) ATP7B and mutated ATP7B groups. Cell proliferation was determined by Cell Counting Kit-8 (CCK-8) assay and apoptosis was detected by Annexin V/propidium iodide (PI) assays.
resultsPedigree analysis showed that compound heterozygous variants (17/18, 94.44%) were present in the majority of WD patients. A total of 33 ATP7B gene variants were identified, including three variants with uncertain significance (VUS) [two splice mutations (c.51+2T>G, c.1543+40G>A) and one frameshift mutation (c.3532_3535del)]. The CCK-8 and apoptosis assays demonstrated that the VUS of ATP7B could significantly affect the transportation of copper.
conclusionsThe study revealed genetic defects of 16 Chinese families and two independent individuals with WD, which enriched the mutation spectrum of the ATP7B gene worldwide and provided valuable information for studying the mutation types of ATP7B in the Chinese populations. Genetic testing in WD patients is necessary to shorten the time to initiate therapy, reduce damage to the liver and improve the prognosis.
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