ArticleBMC medical genetics2011
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 51 citations in OpenAlex.
- APASL clinical practice guidance: the diagnosis and management of patients with Wilson's disease.Hepatology international · 2026Article
- Clinical characteristics and genetic features of patients with Wilson's disease in southwestern China.Orphanet journal of rare diseases · 2026Article
- Assessment of neurological symptoms and associated factors in patients with Wilson's disease in Southwest China.Orphanet journal of rare diseases · 2025Article
- Research progress in stem cell therapy for Wilson disease.Regenerative therapy · 2024Review
- The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.Scientific reports · 2023Article
- Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.Molecular genetics and metabolism reports · 2023Article
- Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study.Journal of movement disorders · 2023Article
- Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.Indian journal of pediatrics · 2023Article
- Nomogram-based prediction of portal vein system thrombosis formation after splenectomy in patients with hepatolenticular degeneration.Frontiers in medicine · 2023Article
- Mutation spectrum ofMolecular genetics and metabolism reports · 2022Article
- Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.Journal of clinical laboratory analysis · 2022Article
- [Guidelines for the diagnosis and treatment of hepatolenticular degeneration (2022 edition)].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2022Article
- Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.BMC gastroenterology · 2021Article
- Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.Molecular genetics & genomic medicine · 2021Article
- A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report.Journal of musculoskeletal & neuronal interactions · 2020Article
- [Clinical diagnosis of genetic liver disease].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2018Article
- High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.BMC medical genetics · 2018Article
- Epidemiology, diagnosis, and treatment of Wilson's disease.Intractable & rare diseases research · 2017Review
- Development and evaluation of an unlabeled probe high-resolution melting assay for detection of ATP7B mutations in Wilson's disease.Journal of clinical laboratory analysis · 2017Article
- Wilson's Disease in China.Neuroscience bulletin · 2017Review
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWilson's disease (WND) is a rare autosomal recessive disorder. Here we have evaluated 62 WND cases (58 probands) from the Chinese Han population to expand our knowledge of ATP7B mutations and to more completely characterize WND in China.
methodsthe coding and promoter regions of the ATP7B gene were analyzed by direct sequencing in 62 Chinese patients (58 probands) with WND (male, n = 37; female, n = 25; age range, 2 ~ 61 years old).
resultsneurologic manifestations were associated with older age at diagnosis (p < 0.0001) and longer diagnostic delay (p < 0.0001). Age at diagnosis was also correlated with urinary copper concentration (r = 0.58, p < 0.001). Forty different mutations, including 14 novel mutations, were identified in these patients. Common mutations included p.Arg778Leu (31.9%) and p.Pro992Leu (11.2%). Homozygous p.Arg778Leu and nonsense mutation/frameshift mutations were more often associated with primary hepatic manifestations (p = 0.0286 and p = 0.0383, respectively) and higher alanine transaminase levels at diagnosis (p = 0.0361 and p = 0.0047, respectively). Nonsense mutation/frameshift mutations were also associated with lower serum ceruloplasmin (p = 0.0065).
conclusionswe identified 14 novel mutations and found that the spectrum of mutations of ATP7B in China is quite distinct from that of Western countries. The mutation type plays a role in predicting clinical manifestations. Genetic testing is a valuable tool to detect WND in young children, especially in patients younger than 8 years old. Four exons (8, 12, 13, and 16) and two mutations (p.Arg778Leu, p.Pro992Leu) should be considered high priority for cost-effective testing in China.
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