Evidence map›Paper›PMID 41788301›Full record

ArticleNeurology. Genetics2026

Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study.

Jie Lin, You-Liang Wang, Yongqiang Qu, Senwei Dong, Yaofeng Fang, Rukai Chen, Ying Ding, Weihong Lin, Jian Chen, Naiqing Cai and 4 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Jie LinDepartment of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0009-0004-5492-4601
You-Liang WangDepartment of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0000-0001-8658-6564
Yongqiang QuDepartment of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0009-0005-7700-7416
Senwei DongFujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0009-0006-8374-1737
Yaofeng FangDepartment of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0009-0005-2565-3037
Rukai ChenDepartment of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0009-0001-0674-1032
Ying DingDepartment of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0009-0005-9185-7839
Weihong LinFujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0000-0003-1329-520X
Jian ChenFujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0000-0003-4367-127X
Naiqing CaiDepartment of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0000-0002-5501-2565
Ning WangDepartment of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0000-0002-9655-9735
Wan-Jin ChenDepartment of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0000-0002-9472-8494
Yi LinDepartment of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0000-0002-8098-4112
Zhiqiang WangDepartment of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.ORCID https://orcid.org/0009-0005-7474-1658

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Conventional genetic diagnostics are low-throughput and may miss intronic, structural, or phenocopy variants, leading to delayed or missed diagnoses. In this study, we evaluate the utility of a custom next-generation sequencing (NGS) panel targeting the full-length Methods: We conducted a prospective cohort study of 144 individuals at our neurogenetic center. Variants identified by NGS were filtered and annotated with in silico tools and classified according to American College of Medical Genetics and Genomics guidelines. Confirmatory Sanger sequencing, multiplex ligation-dependent probe amplification, and reverse transcription PCR assays were performed as needed. Results: Genetic confirmation of WD was achieved in 129 of 144 patients (90%), including 80 typical (Leipzig score ≥4) and 49 atypical (score <4) cases. Ten novel Discussion: Our comprehensive multigene NGS panel enables precise diagnosis of WD by detecting both classical and unconventional pathogenic variants, as well as distinguishing phenocopies. This improved diagnostic accuracy underscores the value of early genetic testing to guide timely intervention, especially in atypical or early-stage cases.

Identifiers

PMID41788301
PMCPMC12959726

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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.