Evidence map›Paper›PMID 29336362›Full record

ArticleChinese medical journal2018

Screening for

Xin Zhao, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, Xiao-Hong Zi, Kun Xia, Bei-Sha Tang and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Chinese medical journal, 2018. 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
0.2field-weighted citation impact, top 54% 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, 3 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

11 authors at 2 institutions in 1 country.

Xin ZhaoDepartment of Neurology, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410006, China.
Ming-Ming JiangDepartment of Neurology, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410006, China.
Yi-Zhou YanDepartment of Neurology, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410006, China.
Lei LiuHealth Management Center, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410006, China.
Yong-Zhi XieDepartment of Neurology, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410006, China.
Xiao-Bo LiDepartment of Neurology, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410006, China.
Zheng-Mao HuState Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410006, China.
Xiao-Hong ZiDepartment of Neurology, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410006, China.
Kun XiaState Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410006, China.
Bei-Sha TangDepartment of Neurology, The Xiangya Hospital of Central South University, Changsha, Hunan 410006, China.
Ru-Xu ZhangDepartment of Neurology, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410006, China.
Central South University · CNThird Xiangya Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims to detect SH3TC2, PMP2, and BSCL2 pathogenic variants in a cohort of 315 unrelated Chinese CMT families.

methodsA total of 315 probands from 315 unrelated Chinese CMT families were recruited from the Department of Neurology of Third Xiangya Hospital and Xiangya Hospital. We screened for SH3TC2 pathogenic variants in 84 AR or sporadic CMT probands, PMP2 pathogenic variants in 39 AD or sporadic CMT1 probands, and BSCL2 pathogenic variants in 50 AD or sporadic CMT2 probands, using polymerase chain reaction and Sanger sequencing. All these patients were out of 315 unrelated Chinese CMT families and genetically undiagnosed after exclusion of pathogenic variants of PMP22, MFN2, MPZ, GJB1, GDAP1, HSPB1, HSPB8, EGR2, NEFL, and RAB7. Candidate variants were analyzed based on the standards and guidelines of American College of Medical Genetics and Genomics (ACMG). Clinical features were reevaluated.

resultsWe identified three novel heterozygous variants such as p.L95V (c.283C>G), p.L1048P (c.3143T>C), and p.V1105M (c.3313G>A) of SH3TC2 gene and no pathogenic variants of PMP2 and BSCL2 genes. Although evaluation in silico and screening in the healthy control revealed that the three SH3TC2 variants were likely pathogenic, no second allele variants were discovered. According to the standards and guidelines of ACMG, the heterozygous SH3TC2 variants such as p.L95V, p.L1048P, and p.V1105M were considered to be of uncertain significance.

conclusionsSH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese CMT patients. Further studies to confirm our findings are needed.

Indexed as

MutationAdolescentAdultCharcot-Marie-Tooth DiseaseCohort StudiesFemaleGTP-Binding Protein gamma SubunitsHumansIntracellular Signaling Peptides and ProteinsMaleMyelin P2 ProteinProteinsBSCL2 protein, humanGTP-Binding Protein gamma SubunitsIntracellular Signaling Peptides and ProteinsMyelin P2 ProteinPMP2 protein, humanProteinsSH3TC2 protein, human

Identifiers

PMID29336362
PMCPMC5776844
OpenAlexW2783523252

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
Read underepoch 390

Registered trials

None linked

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.