Evidence map›Paper›PMID 34368859›Full record

ArticleMolecular medicine reports2021

Comparative analysis of the autism‑related variants between different autistic children in a family pedigree.

Luxi Shen, Panyuan Li, Tianjin Zheng, Meichen Luo, Shao Zhang, Yuting Huang, Yongwu Hu, Hongzhi Li

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

Article in Molecular medicine reports, 2021. 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 50% 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. Article
  2. Review
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

8 authors at 3 institutions in 1 country.

Luxi ShenDepartment of Internal Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, P.R. China.
Panyuan LiZhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, P.R. China.
Tianjin ZhengDepartment of Child Health, Wenzhou Maternal and Child Health Guidance Center, Wenzhou, Zhejiang 325000, P.R. China.
Meichen LuoMental Health Center, Wenzhou Medical University, Wenzhou, Zhejiang 325035, P.R. China.
Shao ZhangDepartment of Child Stomatology, Wenzhou Central Hospital, Wenzhou, Zhejiang 325000, P.R. China.
Yuting HuangZhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, P.R. China.
Yongwu HuZhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, P.R. China.
Hongzhi LiZhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, P.R. China.
Wenzhou Medical University · CNBeijing Friendship Hospital · CNWenzhou Central Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The present study aimed to provide evidence for the genetic heterogeneity of familial autism spectrum disorder (ASD), which might help to improve our understanding of the complex polygenic basis of this disease. Whole‑exome sequencing (WES) was performed on two autistic children in a family pedigree, and reasonable conditions were set for preliminarily screening variant annotations. Sanger sequencing was used to verify the preliminarily screened variants and to determine the possible sources. In addition, autism‑related genes were screened according to autism databases, and their variants were compared between two autistic children. The results showed that there were 21 genes respectively for autistic children Ⅳ2 and Ⅳ4, preliminarily screened from all variants based on the harmfulness (high) and quality (high or medium) of the variants, as well as the association between mutant genes and autism in human gene mutation database. Furthermore, candidate autism‑related genes were screened according to the evidence score of >4 in the Autism KnowledgeBase (AutismKB) database or ≥3 in the AutDB database. A total of 11 and 10 candidate autism‑related genes were identified in the autistic children Ⅳ2 and Ⅳ4, respectively. Candidate genes with an evidence score of >16 in AutismKB were credible autism‑related genes, which included LAMC3, JMJD1C and CACNA1H in child Ⅳ2, as well as SCN1A, SETD5, CHD7 and KCNMA1 in child Ⅳ4. Other than the c.G1499A mutation of SCN1A, which is known to be associated with Dravet syndrome, the specific missense variant loci of other six highly credible putative autism‑related genes were reported for the first time, to the best of the authors' knowledge, in the present study. These credible autism‑related variants were inherited not only from immediate family members but also from extended family members. In summary, the present study established a reasonable and feasible method for screening credible autism‑related genes from WES results, which by be worth extending into clinical practice. The different credible autism‑related genes between the two autistic children indicated a complex polygenic architecture of ASD, which may assist in the early diagnosis of this disease.

Indexed as

PedigreeAutism Spectrum DisorderAutistic DisorderCalcium Channels, T-TypeChildChild, PreschoolDNA-Binding ProteinsDNA HelicasesExome SequencingFamilyFemaleGenetic Predisposition to DiseaseGenetic TestingHumansJumonji Domain-Containing Histone DemethylasesLamininCACNA1H protein, humanCalcium Channels, T-TypeCHD7 protein, humanDNA-Binding ProteinsDNA HelicasesJMJD1C protein, humanJumonji Domain-Containing Histone DemethylasesKCNMA1 protein, humanLAMC3 protein, humanLamininLarge-Conductance Calcium-Activated Potassium Channel alpha SubunitsMethyltransferasesNAV1.1 Voltage-Gated Sodium ChannelOxidoreductases, N-DemethylatingSCN1A protein, humanSETD5 protein, humanautism spectrum disorderfamily pedigreegenetic heterogeneitygene variationwhole‑exome sequencing

Identifiers

PMID34368859
PMCPMC8365409
OpenAlexW3189951141

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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.