ArticleTheranostics2016
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Article in Theranostics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
67 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.
- A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of aceruloplasminemia patients.Metabolic brain disease · 2021Pooled it
- APASL clinical practice guidance: the diagnosis and management of patients with Wilson's disease.Hepatology international · 2026Article
- Referral-spectrum Effect in Hypercupriuric Referrals for Suspected Wilson Disease: Diagnostic Implications for Ceruloplasmin and 24-hour Urinary Copper Excretion.Journal of clinical and translational hepatology · 2026Article
- Diagnostic value of genetic testing in chorea: a retrospective monocentric study.Journal of neurology · 2026Article
- Pathogenic variation distribution of ACMG 3.2 list genes in 11 ethnic groups in southwest China.BMC genomics · 2026Article
- Prevalence of pre-existing neutralizing antibodies to AAV5 and AAV8 in patients with Wilson's disease.Molecular therapy. Advances · 2026Article
- Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study.Neurology. Genetics · 2026Article
- New variant in KITLG shapes the pathogenesis of familial progressive hyper- and hypo-pigmentation.Molecular genetics and genomics : MGG · 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
- The pathogenesis of liver fibrosis in Wilson's disease: hepatocyte injury and regulation mediated by copper metabolism dysregulation.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026Review
- Age-associated clinical characteristics andFrontiers in genetics · 2026Article
- Analyses ofHuman mutation · 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
- A rare presentation of Wilson disease with normal levels of serum ceruloplasmin and copper and MODY: A case report.Medicine · 2025Article
- Clinical Characteristics, Treatment Effects and Risk Factors of Liver Cirrhosis in Patients with Wilson's Disease Hepatic Type.Journal of clinical and translational hepatology · 2025Article
- Effect of primary copper metabolism disturbance on elemental, protein, and lipid composition of the organs in Jackson toxic milk mouse.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2025Article
- Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.Journal of human genetics · 2025Article
- Clinical and genetic characterization of patients with late onset Wilson's disease.NPJ genomic medicine · 2024Article
- Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.Biomedicines · 2024Article
- Aberrant copper metabolism and hepatic inflammation cause neurological manifestations in a mouse model of Wilson's disease.Journal of neuroinflammation · 2024Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWilson's disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B pathogenic mutations. The symptoms of WD can be effectively prevented if the affected individuals are identified and intervened early. However, clinical utility of this molecular analysis is challenging due to hundreds of variants with various clinical effects in the gene. Here, we aim to describe the spectrum of ATP7B variants and assess their clinical effects in the Han Chinese population.
methodsThe ATP7B gene was directly sequenced in 632 unrelated WD patients and 503 unrelated healthy individuals. The effects of identified variants were classified according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines. Different frequency of variants observed in both cases and controls were tested using Chi-square or Fisher's exact tests.
resultsWe detected 161 non-synonymous variants in these 632 WD patients, 58 of which were novel. Among these variants, 78, 64, 8, 4, and 7 were classified as 'pathogenic variants', 'likely pathogenic variants', 'variants with uncertain significance', 'likely benign variants', and 'benign variants', respectively. Ninety percent (569/632) of these WD patients can be genetically diagnosed with two or more 'pathogenic' or 'likely pathogenic' variants. The 14 most common disease-causing variants were found at least once in 94% (537/569) of genetically diagnosed patients.
conclusionsThese data expand the spectrum of ATP7B variants and facilitate effective screening for ATP7B variants for early diagnosis of WD and development of individualized treatment regimens.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.