Evidence map›Paper›PMID 36648520›Full record

ArticleJournal of neurology2023

Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population.

Junyu Lin, Chunyu Li, Yiyuan Cui, Yanbing Hou, Lingyu Zhang, Ruwei Ou, Qianqian Wei, Kuncheng Liu, Tianmi Yang, Yi Xiao and 5 more

Abstract read
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In one paragraph

Article in Journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.9field-weighted citation impact, top 26% of its field
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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Article
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

15 authors at 1 institution in 1 country.

Junyu Lin *Department of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Chunyu Li *Department of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Yiyuan CuiDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Yanbing HouDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Lingyu ZhangDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Ruwei OuDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Qianqian WeiDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Kuncheng LiuDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Tianmi YangDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Yi XiaoDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Qirui JiangDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Bi ZhaoDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Jing YangDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Xueping ChenDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China.
Huifang ShangDepartment of Neurology, Rare Disease Center, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, No 37, Guo Xue Road, Chengdu, 610041, Sichuan, China. hfshang2002@126.com.ORCID http://orcid.org/0000-0003-0947-1151
Sichuan University · CN

Funding

Sichuan Science and Technology Program 2022ZDZX0023
6 · The paper itself

Abstract

STUDY

objectivesRecently, IMPDH2 has been linked to dystonia. However, no replication study from other cohorts has been conducted to confirm the association. We aimed to systematically evaluate the genetic associations of IMPDH2 with dystonia in a large dystonia cohort.

methodsWe analyzed rare variants (minor allele frequency < 0.01) of IMPDH2 in 688 Chinese dystonia patients with whole exome sequencing. The over-representation of rare variants in patients was examined with Fisher's exact test at allele and gene levels.

resultsFour rare variants were detected in IMPDH2 in four patients with dystonia in our cohort, including three missense variants (p.Ser508Leu, p.Ala396Thr, and p.Phe24Val) and one splice acceptor variant (c.1296-1G>T). Two of them (c.1296-1G>T and p.Ser508Leu) were co-segregated in the family co-segregation analysis and were classified as pathogenic and likely pathogenic variant according to the American College of Medical Genetics and Genomics (ACMG) guidelines, respectively. Gene burden analysis revealed enrichment of rare variants in IMPDH2 in dystonia.

conclusionsOur work supplemented the evidence on the role of IMPDH2 in autosomal dominant dystonia in Chinese population, and expanded the genetic and phenotypic spectrum of IMPDH2, paving way for future studies.

Indexed as

DystoniaDystonic DisordersAllelesEast Asian PeopleHumansIMP DehydrogenaseMutation, MissenseIMP DehydrogenaseIMPDH2 protein, humanBurden analysisDystoniaIMPDH2Rare variant

Identifiers

PMID36648520
OpenAlexW4316810830

What OpenQuestion holds

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Registered trials

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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.