Evidence map›Paper›PMID 39007454›Full record

ArticleMolecular genetics & genomic medicine2024

Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report.

Liya Wang, Wenshan Zeng, Yeqing Qian, Yixi Sun, Min Chen, Bei Liu, Junjie Hu, Ping Yu, Minyue Dong

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Liya WangDepartment of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Wenshan ZengDepartment of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Yeqing QianDepartment of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Yixi SunDepartment of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Min ChenDepartment of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Bei LiuDepartment of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Junjie HuDepartment of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.ORCID https://orcid.org/0000-0002-7523-6101
Ping YuHangzhou Inogene Clinical Laboratories, Hangzhou, China.
Minyue DongDepartment of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.ORCID https://orcid.org/0000-0002-4344-7924

Funding

National Key Research and Development Program of China 2018YFC1004900the Key Projects Jointly Constructed by the Ministry and the Province of Zhejiang Medical and Health Science and Technology Project WKJ-ZJ-2127the National Natural Science Foundation of China 82001625Zhejiang Provincial Natural Science Foundation of China LQ21H300006Zhejiang Provincial Natural Science Foundation of China LY22H110004
6 · The paper itself

Abstract

backgroundSynonymous variants are non-pathogenic due to non-substitution of amino acids. However, synonymous exonic terminal nucleotide substitutions may affect splicing. Splicing variants are easily analyzed at RNA level for genes expressed in blood cells. Minigene analysis provides another method for splicing variant analysis of genes that are poorly or not expressed in peripheral blood.

methodsWhole exome sequencing was performed to screen for potential pathogenic mutations in the proband, which were validated within the family by Sanger sequencing. The pathogenicity of the synonymous mutation was analyzed using the minigene technology.

resultsThe proband harbored the compound heterogeneous variants c. [291G >A; 572-50C >T] and c.681 + 1G >T in F7, of which the synonymous variant c.291G >A was located at the terminal position of exon 3. Minigene analysis revealed exon3 skipping due to this mutation, which may have subsequently affected protein sequence, structure, and function.

conclusionOur finding confirmed the pathogenicity of c.291G >A, thus extending the pathogenic mutation spectrum of F7, and providing insights for effective reproductive counseling.

Indexed as

ExonsFactor VIIRNA SplicingSilent MutationAdultFemaleHumansMalePedigreeFactor VIIalternative splicingfactor VII deficiencyminigenesynonymous variantswhole exome sequencing

Identifiers

PMID39007454
PMCPMC11247393

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