ArticlePloS one2016
Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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16 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Therapeutic efficiency of bone marrow-derived mesenchymal stem cells for liver fibrosis: A systematic review ofWorld journal of gastroenterology · 2020Pooled it
- Utility of High-Throughput Genomic Analysis for Genetic Counseling in Large Family with Wilson Disease Carrying a Novel 28-bpDiagnostics (Basel, Switzerland) · 2026Article
- Analyses ofHuman mutation · 2026Article
- Wilson's Disease-Genetic Puzzles with Diagnostic Implications.Diagnostics (Basel, Switzerland) · 2023Review
- Missing heritability of Wilson disease: a search for the uncharacterized mutations.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Genes · 2023Review
- Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.Molecular genetics & genomic medicine · 2021Article
- Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.Biomedicines · 2021Review
- Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.Molecular genetics & genomic medicine · 2020Article
- Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype.BMC medical genetics · 2020Article
- A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next‑generation sequencing and Sanger sequencing.Molecular medicine reports · 2020Article
- A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs.Scientific reports · 2019Article
- Strategies to improve the efficiency of mesenchymal stem cell transplantation for reversal of liver fibrosis.Journal of cellular and molecular medicine · 2019Review
- An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.European journal of human genetics : EJHG · 2018Article
- Potential Role of Brain-Derived Neurotrophic Factor and Dopamine Receptor D2 Gene Variants as Modifiers for the Susceptibility and Clinical Course of Wilson's Disease.Neuromolecular medicine · 2018Article
- Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.BMC medical genetics · 2018Article
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson's disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B resulting in copper overload in the liver and brain. Direct sequencing is routinely used to confirm WD diagnosis; however, partial and whole gene deletions in the heterozygous state cannot be detected by exon amplification since the normal allele will mask its presence. The aim of the present work was to search for unusual mutational events in the unexplained WD cases and to provide insight into the mechanisms. Out of 1420 clinically and biochemically confirmed WD samples received between 2000 and 2014 for routine mutation analysis, we were unable to detect mutant alleles in 142 samples, after extensive sequencing analysis. We used selective amplification and MLPA to identify the partial gene deletions and identified three different partial gene deletions in seven different families. All three deletions were fully characterized at the DNA sequence level. We report the first hemizygous case with WD due to intragenic deletion in the ATP7B (c.3134_3556+689del). This novel deletion resulted from an excision event mediated by consensus sequences in an AluSq2 repeat element and could be traced to micro homologous end joining (MMEJ). Finally, we determined the prevalence of the three deletions in DNA samples from a multinational group of WD patients. Our results emphasize the need for searching mutant alleles beyond routine methods and highlight that large ATP7B deletions are rare, but account for a detectable proportion in some WD patients. Screening for gene aberrations will further improve mutation detection in patients with unidentified ATP7B mutations presenting with clinical manifestations of WD.
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