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Article

Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest.

Clinical genetics - 1 Jun 2025

Zhang Changlong, Zhao Shuai, Zhang Honghui, Su Wei, Wang Yang, Cui Ying, Yang Bohan, Wang Yikun, Zhao Han

Abstract excerpt

The subcortical maternal complex (SCMC) is crucial for the oocyte-to-embryo transition, and genetic variants in SCMC genes have been associated with early embryonic arrest (EEA). In this study, we performed whole-exome sequencing on 303 independent females with EEA and identified 16 patients with biallelic pathogenic variants in SCMC genes (NLRP2, NLRP5, PADI6, and TLE6), accounting for 5.3% of EEA cases. NLRP5...

Topics

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Adaptor Proteins, Signal Transducing
Apoptosis Regulatory Proteins
Autoantigens
Co-Repressor Proteins
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infertility, Female

Mitochondrial Proteins

Repressor Proteins

Source

Identifiers

PMID: 39887367
DOI: 10.1111/cge.14696

Genes

NLRP5
TLE6
NLRP2
PADI6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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