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Purpose <p>Early 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.</p> Methods <p>Whole-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.</p> Results <p>We identified three novel homozygous mutations of <i>NLRP2</i> (p.Arg81*, p.Lys312del, and p.Val316Ala) and compound heterozygous mutations with a novel frameshift mutation and a novel missense mutation of <i>NLRP7</i> (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.</p> Conclusion <p>This study identified novel mutations in <i>NLRP2</i> and <i>NLRP7</i>, expanding the mutational and phenotypic spectrum of <i>NLRP2</i> and <i>NLRP7</i>. Our findings also establish the foundation for genetic diagnosis in recurrent IVF/ICSI failure patients with early embryonic arrest.</p>

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

  • 期刊论文

  • 发表日期：

    2026年7月17日

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  • Ruyi Liu,
  • Shuwen Qiu,
  • Menghui Li,
  • Jian Mu,
  • Qing Sang,
  • Yong Fan,
  • Mingru Yin,
  • Tiantian Wang,
  • Meng Ma,
  • Jie Zhang,
  • Ling Wu

摘要

Purpose

Early 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.

Methods

Whole-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.

Results

We 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.

Conclusion

This 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.