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Article

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

Journal of assisted reproduction and genetics - 1 Aug 2026

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Humans
Female
HeLa Cells
Adult
Adaptor Proteins, Signal Transducing
Infertility, Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Apoptosis Regulatory Proteins

Mutation

Exome Sequencing

Fertilization in Vitro

Source

Open in PubMed Open full text

Identifiers

PMID: 42463968
DOI: 10.1007/s10815-026-03959-2
PMCID: PMC13597996

Genes

NLRP2
NLRP7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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