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Novel mutations in NLRP2 and NLRP7 cause early embryonic arrest and female infertility
Ruyi Liu1, Shuwen Qiu1, Menghui Li1
1Department of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
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.
Insights
This study identified novel mutations in NLRP2 and NLRP7 genes in patients experiencing early embryonic arrest, offering a foundation for genetic diagnosis in recurrent in vitro fertilization/intracytoplasmic sperm injection failures.
Area of Science:
- Genetics
- Reproductive Biology
Background:
- Recurrent in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) failures are often linked to early embryonic arrest.
- Identifying genetic causes is crucial for understanding and diagnosing female infertility.
Purpose of the Study:
- To identify pathogenic mutations in female infertility patients presenting with early embryonic arrest.
- To expand the known spectrum of mutations and phenotypes associated with NLRP2 and NLRP7 genes.
Main Methods:
- Whole-exome sequencing was employed to identify mutations in affected patients.
- Sanger sequencing confirmed mutations in patients and their families.
- Functional studies using HeLa cells (plasmid transfection, Western blot, immunofluorescent staining) assessed mutation effects.
Main Results:
- Three novel homozygous mutations in NLRP2 (p.Arg81*, p.Lys312del, p.Val316Ala) were identified.
- Compound heterozygous mutations in NLRP7 (p.Gln315Arg fs*5, p.Ile830Thr) were found.
- Mutations significantly decreased NLRP2 and NLRP7 protein levels, affecting protein stability and localization.
Conclusions:
- Novel mutations in NLRP2 and NLRP7 were identified, broadening their known mutational and phenotypic spectrum.
- These findings provide a basis for genetic diagnosis in patients with recurrent IVF/ICSI failure due to early embryonic arrest.
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