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Article

From PGT-M discovery to mechanism: functional validation of novel compound heterozygous RAG1 mutations in severe combined immunodeficiency.

Journal of assisted reproduction and genetics - 1 Jun 2026

Liu Yongxiang, Shan Xiongwei, Huang Guilan, Duan Yuwei, Li Yunshi, Hou Wenhui, Li Zishuo, Zhang Shuting, Weng Zhiwei, Zhou Shaohu, Huang Xuekun

Abstract excerpt

PURPOSE: Severe combined immunodeficiency (SCID) is a life-threatening primary immunodeficiency disorder. This study aimed to identify novel recombination activating gene 1 (RAG1) variants in a Chinese pedigree and characterize their impact on protein structure and function, providing a genetic basis for preimplantation genetic testing for monogenic (PGT-M) cycle. METHODS: Potential RAG1 mutations of the probands...

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Source

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Identifiers

PMID: 42118412
DOI: 10.1007/s10815-026-03887-1
PMCID: PMC13319842

Genes

RAG1
AKT1
FOXO1
RAG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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