ArticleJournal of human genetics2008
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
Article in Journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 74 citations in OpenAlex.
- Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.Biochemical genetics · 2025Pooled it
- The global prevalence of Wilson disease from next-generation sequencing data.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Founder mutations in movement disorders: global distribution, molecular mechanisms, and clinical consequences-a scoping review.Neurogenetics · 2026Article
- 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
- 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
- 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
- Review of the Efficacy and Mechanisms of Traditional Chinese Medicine for Treating Multi-Organ Damage in Wilson's Disease.Drug design, development and therapy · 2025Review
- Case report: Co-occurrence of Wilson's and Alexander's diseases revealed by genetic analysis.Frontiers in neurology · 2025Article
- Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots-Reinstate the Potential Use for Newborn Screening of Wilson Disease.International journal of neonatal screening · 2022Article
- Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.Journal of clinical laboratory analysis · 2022Article
- Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.Journal of clinical laboratory analysis · 2022Article
- Article
- Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.Molecular genetics & genomic medicine · 2021Article
- Prevalent Pathogenic Variants ofGenes · 2021Article
- Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.Current neuropharmacology · 2021Article
- Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.Molecular genetics & genomic medicine · 2020Article
- [Mutational analysis of ATP7B gene of hepatolenticular degeneration in Xinjiang region].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2020Article
- Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family.Molecular biology reports · 2018Article
- Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.Journal of genetics · 2017Article
Corrections and comments
- Erratum issued
- Erratum issuedLai, Jak-Yiu [corrected to Lai, Sik-To]
Authors and funding
25 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson disease (WD), an autosomal recessive disorder of copper transport, is the most common inherited liver disorder in Hong Kong Chinese. This was the first local study to elucidate the molecular basis and establish an effective DNA-based diagnostic protocol. The ATP7B genes of 65 patients were amplified by polymerase chain reaction (PCR) and sequenced. Haplotype analysis was performed using D13S301, D13S314, and D13S316. The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence. Allele age of p.R778L was determined by the smallest homozygosity region between D13S301 and D13S270. We identified 42 different mutations with 17 being novel. p.R778L (17.3%) was the most prevalent. Exons 2, 8, 12, 13, and 16 harbored 70% mutations. Thirty-two haplotypes were associated with WD chromosomes. The estimated prevalence rate was 1 in 5,400. Three out of 660 normal subjects had p.L770L/p.R778L. In the remaining 657 individuals, neither p.L770L nor p.R778L was found. We characterized a Hong Kong Chinese-specific ATP7B mutation spectrum with great genetic diversity. Exons 2, 8, 12, 13, and 16 should be screened first. The perfect linkage disequilibrium suggested that p.R778L and its private polymorphism p.L770L originated from a single ancestor. This East-Asian-specific mutation p.R778L/p.L770L is aged at least 5,500 years.
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