Evidence map›Paper›PMID 36316717›Full record

ArticleHuman genomics2022

Copy number variant analysis for syndromic congenital heart disease in the Chinese population.

Ping Li, Weicheng Chen, Mengru Li, Zhengshan Zhao, Zhiyu Feng, Han Gao, Meijiao Suo, Ziqing Xu, Guixiang Tian, Feizhen Wu and 2 more

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

Article in Human genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.0field-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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. 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

12 authors at 1 institution in 1 country.

Ping Li *Pediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China.
Weicheng Chen *Pediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China.
Mengru LiPediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China.
Zhengshan ZhaoPediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China.
Zhiyu FengPediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China.
Han GaoPediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China.
Meijiao SuoPediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China.
Ziqing XuPediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China.
Guixiang TianPediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China.
Feizhen WuPediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China.
Sheng WeiPediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China. sheng4616@sina.com.
Guoying HuangPediatric Heart Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai, 201102, People's Republic of China. gyhuang@shmu.edu.cn.
Children's Hospital of Fudan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSyndromic congenital heart disease (CHD) is among the most severe conditions in the pediatric population. Copy number variant (CNV) is an important cause of syndromic CHD, but few studies focused on CNVs related to these patients in China. The present study aimed to identify pathogenic CNVs associated with syndromic CHD in the Chinese population.

methodsA total of 109 sporadic patients with syndromic CHD were applied chromosomal microarray analysis (CMA). Phenotype spectrum of pathogenic or likely pathogenic CNVs was analyzed. CHD-related genes were prioritized from genes within pathogenic or likely pathogenic CNVs by VarElect, OVA, AMELIE, and ToppGene.

resultsUsing CMA, we identified 43 candidate CNVs in 37/109 patients. After filtering CNVs present in the general population, 29 pathogenic/likely pathogenic CNVs in 24 patients were identified. The diagnostic yield of CMA for pathogenic/likely pathogenic CNVs was 23.1% (24/104), excluding 5 cases with aneuploidies or gross chromosomal aberrations. The overlapping analysis of CHD-related gene lists from different prioritization tools highlighted 16 CHD candidate genes.

conclusionAs the first study focused on CNVs in syndromic CHD from the Chinese population, this study reveals the importance of CMA in exploring the genetic etiology of syndromic CHD and expands our understanding of these complex diseases. The bioinformatic analysis of candidate genes suggests several CHD-related genes for further functional research.

Indexed as

DNA Copy Number VariationsHeart Defects, CongenitalAsian PeopleChildChromosome AberrationsHumansMicroarray AnalysisCandidate geneChromosomal microarray analysisCopy number variantSyndromic congenital heart disease

Identifiers

PMID36316717
PMCPMC9623925
OpenAlexW4307716782

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.