Evidence map›Paper›PMID 42463968›Full record

ArticleJournal of assisted reproduction and genetics2026

Novel mutations in NLRP2 and NLRP7 cause early embryonic arrest and female infertility.

Ruyi Liu, Shuwen Qiu, Menghui Li, Jian Mu, Qing Sang, Yong Fan, Mingru Yin, Tiantian Wang, Meng Ma, Jie Zhang and 1 more

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In one paragraph

Article in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Ruyi LiuDepartment of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Shuwen QiuDepartment of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Menghui LiDepartment of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Jian MuInstitute of Pediatrics, Children's Hospital of Fudan University, the Institutes of Biomedical Sciences, and the State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Qing SangInstitute of Pediatrics, Children's Hospital of Fudan University, the Institutes of Biomedical Sciences, and the State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.
Yong FanDepartment of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Mingru YinDepartment of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Tiantian WangDepartment of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Meng MaDepartment of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. mamengjiyi@163.com.
Jie ZhangDepartment of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. dr.zhangjie@qq.com.
Ling WuDepartment of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. wuling9hospital@126.com.ORCID https://orcid.org/0000-0001-9217-9412

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeEarly embryonic arrest is one of the reasons for the recurrent IVF/ICSI failures. We aimed to identify pathogenic mutations in female infertility patients with early embryonic arrest.

methodsWhole-exome sequencing was performed in the affected patients. Sanger sequencing was used on patients and their families to confirm the identified mutations. Wild-type and mutant plasmids were constructed and transfected into HeLa cells to investigate the functional effect of the identified mutations.

resultsWe identified three novel homozygous mutations of NLRP2 (p.Arg81*, p.Lys312del, and p.Val316Ala) and compound heterozygous mutations with a novel frameshift mutation and a novel missense mutation of NLRP7 (p.Gln315Arg fs*5 and p.Ile830Thr) in the affected individuals with early embryonic arrest. Western blot in HeLa cells showed the mutations caused a significant decrease in NLRP2 and NLRP7 to a varying degree, which impaired the stability of the proteins. Immunofluorescent staining showed some mutations altered the localization of NLRP2 and NLRP7.

conclusionThis study identified novel mutations in NLRP2 and NLRP7, expanding the mutational and phenotypic spectrum of NLRP2 and NLRP7. Our findings also establish the foundation for genetic diagnosis in recurrent IVF/ICSI failure patients with early embryonic arrest.

Indexed as

Adaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsInfertility, FemaleAdultExome SequencingFemaleFertilization in VitroHeLa CellsHumansMutationAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsNLRP2 protein, humanNLRP7 protein, humanEarly embryonic arrestFemale infertilityMutationNLRP2NLRP7

Identifiers

PMID42463968
PMCPMC13597996

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