Evidence map›Paper›PMID 31691538›Full record

ArticleMolecular genetics & genomic medicine2020

Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome.

Xiao Song, Xueyan Wang, Li Ding, Dan He, Jin Sun, Na Xi, Yan Yin, Hui Peng, Lingling Sun

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

Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 37% of its field
1 · What the graph read from it

What it found

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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

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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

3 citing papers in PubMed, 5 citations in OpenAlex.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Xiao SongDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Hospital for Women and Children, Chengdu, Sichuan, China.
Xueyan WangDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Hospital for Women and Children, Chengdu, Sichuan, China.ORCID 0000-0001-8666-6089
Li DingDepartment of Radiology, Sichuan Provincial Hospital for Women and Children, Chengdu, Sichuan, China.
Dan HeDepartment of Maternal and Child Health Management, Sichuan Provincial Hospital for Women and Children, Chengdu, Sichuan, China.
Jin SunDepartment of Pharmacy, Sichuan Provincial Hospital for Women and Children, Chengdu, Sichuan, China.
Na XiDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Hospital for Women and Children, Chengdu, Sichuan, China.
Yan YinDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Hospital for Women and Children, Chengdu, Sichuan, China.
Hui PengDepartment of Ultrasound, Sichuan Provincial Hospital for Women and Children, Chengdu, Sichuan, China.
Lingling SunDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Hospital for Women and Children, Chengdu, Sichuan, China.
Chengdu Women's and Children's Central Hospital · CNMaternal and Child Health Hospital of Sichuan Province · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCHARGE syndrome is a complex multisystem genetic disease. We aimed to find the potential gene mutation in the labor induced fetus with CHARGE syndrome.

methodsGenomic DNA was extracted from the fetal thigh muscle tissue and the peripheral blood of his parents. The resulting exomes were sequenced using whole exome sequencing (WES) followed by the selection of the candidate causative mutation genes. The deleteriousness of the identified variants was predicted. Analysis of multiple alignment of protein sequences and protein conserved domains was performed by online software. Finally, Sanger sequencing was applied for validation of the identified variants in the WES.

resultsAfter sequencing and bioinformatics filtering, a heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) was found in the fetus, while the mutation was absent in his parents. Genotyping results showed that the mutation cosegregated fully with definite CHARGE phenotypes between the fetus and his parents. This change was located in the Sema superfamily and highly conserved across different species. Sanger validation result was consistent with the WES analysis.

conclusionOur investigations suggested that the heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) may be a potential causal variant in the fetus with CHARGE syndrome.

Indexed as

Mutation, MissenseAdultCHARGE SyndromeFemaleFetusHeterozygoteHumansSemaphorinsSEMA3E protein, humanSemaphorinsCHARGE syndromefetusheterozygous missense mutationSEMA3Ewhole exome sequencing

Identifiers

PMID31691538
PMCPMC6978240
OpenAlexW2987043614

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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.