Evidence map›Paper›PMID 39297991›Full record

ArticleJournal of assisted reproduction and genetics2024

Identification of a novel splicing variant of thyroid hormone receptor interaction protein 13 (TRIP13) in female infertility characterized by oocyte maturation arrest.

Jia Chen, Yuxin Liu, Xingwu Wu, Yiwei Zhang, Wen Huang, Wenbo Han, Ge Chen, Qiang Xu, Houyang Chen, Qiongfang Wu and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of assisted reproduction and genetics, 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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0cells of the map it votes in
1citing papers in PubMed
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1 · What the graph read from it

What it found

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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

Corrections and comments

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5 · Who and what money

Authors and funding

12 authors.

Jia Chen *Center for Reproductive Medicine, Jiangxi Key Laboratory of Reproductive Health, Jiangxi Branch of National Clinical Research Center for Obstetrics and Gynecology, Jiangxi Maternal and Child Health Hospital, Nanchang Medical College, Nanchang, China.
Yuxin Liu *Department of Clinical Medicine, Nanchang University School of Queen Mary, Nanchang, China.
Xingwu Wu *Center for Reproductive Medicine, Jiangxi Key Laboratory of Reproductive Health, Jiangxi Branch of National Clinical Research Center for Obstetrics and Gynecology, Jiangxi Maternal and Child Health Hospital, Nanchang Medical College, Nanchang, China.
Yiwei ZhangDepartment of Clinical Medicine, Nanchang University School of Queen Mary, Nanchang, China.
Wen HuangCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Wenbo HanCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Ge ChenCentral Laboratory, Jiangxi Maternal and Child Health Hospital, Nanchang, China.
Qiang XuCenter for Reproductive Medicine, Jiangxi Key Laboratory of Reproductive Health, Jiangxi Branch of National Clinical Research Center for Obstetrics and Gynecology, Jiangxi Maternal and Child Health Hospital, Nanchang Medical College, Nanchang, China.
Houyang ChenCenter for Reproductive Medicine, Jiangxi Key Laboratory of Reproductive Health, Jiangxi Branch of National Clinical Research Center for Obstetrics and Gynecology, Jiangxi Maternal and Child Health Hospital, Nanchang Medical College, Nanchang, China.
Qiongfang WuCenter for Reproductive Medicine, Jiangxi Key Laboratory of Reproductive Health, Jiangxi Branch of National Clinical Research Center for Obstetrics and Gynecology, Jiangxi Maternal and Child Health Hospital, Nanchang Medical College, Nanchang, China.
Jiawei WangDivision of Life Sciences and Medicine, Reproductive and Genetic Hospital, The First Affiliated Hospital of USTC, University of Science and Technology of China, Hefei, China. 617290535@qq.com.
Jialyu HuangCenter for Reproductive Medicine, Jiangxi Key Laboratory of Reproductive Health, Jiangxi Branch of National Clinical Research Center for Obstetrics and Gynecology, Jiangxi Maternal and Child Health Hospital, Nanchang Medical College, Nanchang, China. huangjialv_medicine@foxmail.com.ORCID http://orcid.org/0000-0002-2629-3986

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeAs a cause of primary female infertility, oocyte maturation arrest (OMA) is characterized by failure to obtain mature oocytes due to abnormal meiosis. We aimed to identify pathogenic variants in two sisters with OMA phenotype from a non-consanguineous family.

methodsWhole-exome sequencing and Sanger sequencing were conducted to identify and validate the disease-causing gene variant. Additionally, we performed a minigene assay, quantitative reverse transcription PCR, and Western blotting to assess the effects of the variant.

resultsWe identified a novel homozygous splicing variant (c.1021-11T>C) in TRIP13, which followed a recessive inheritance pattern. Minigene assay showed that the variant could disrupt the integrity of TRIP13 mRNA, as evidenced by the production of an alternative transcript with intron10 intermediate retention of 79 bp. Compared to normal controls, the expression of TRIP13 mRNA and abundance of TRIP13 protein were also significantly decreased in Epstein-Barr virus-immortalized lymphoblastoid cells derived from affected individuals.

conclusionOur findings confirm the contribution of genetic factors to OMA and expand the mutation spectrum of TRIP13 in female infertility.

Indexed as

Infertility, FemaleOocytesAdultExome SequencingFemaleHumansMeiosisMutationOogenesisPedigreeRNA SplicingFemale infertilityOocyte maturation arrestTRIP13Variant

Identifiers

PMID39297991
PMCPMC11535116

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