ArticleJIMD reports2020
p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease.
Article in JIMD reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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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.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Re-evaluation of the existing health-based guidance values for copper and exposure assessment from all sources.EFSA journal. European Food Safety Authority · 2023Article
- Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.Diagnostics (Basel, Switzerland) · 2022Article
- Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundWilson disease (WD) is an autosomal recessive disorder of copper transport caused by inherited defects in the METHODS AND
resultsATP7B was quantified using the peptide immunoaffinity enrichment coupled with selected reaction monitoring mass spectrometry (immuno-SRM) method which utilizes antibody-mediated peptide capture from DBS. Two patients affected with WD had undetectable ATP7B level while four compound heterozygous children with one known pathogenic variant and the p.P1379S had significantly reduced ATP7B levels. Of note, all four children remain asymptomatic without abnormal laboratory consequences despite being untreated for WD.
conclusionThese two families demonstrated that p.P1379S, when compounded with two known pathogenic variants, resulted in significantly reduced protein levels but retained enough function to maintain normal copper homeostasis. This implies that p.P1379S is benign in nature. A better understanding of the nature and consequences of variants in WD will help in informing patient care and avoiding unnecessary treatments.
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Registered trials
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