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Article

Biallelic variants in DLGAP5 cause spindle assembly defects and human early embryonic arrest.

Human reproduction (Oxford, England) - 1 Oct 2025

Hu Huiling, Wan Xian, Sun Jiaqi, Zhang Shen, Guo Jing, Zhang Yinli, Meng Fei, Zhang Shuoping, Gu Yifan, Gong Fei, Liao Hongqing, Lin Ge, Zheng Wei

Abstract excerpt

STUDY QUESTION: What effects do DLGAP5 defects have on human early embryo development? SUMMARY ANSWER: DLGAP5 deficiency disrupts normal spindle assembly through its interaction with TACC3, leading to female infertility characterized by recurrent early embryonic arrest (REEA). WHAT IS KNOWN ALREADY: REEA is a significant contributor to failures in assisted reproductive technology. While genetic factors play a...

Read the complete abstract on PubMed

Topics

Humans
Female
Animals
Mice
Spindle Apparatus
Embryonic Development

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

Infertility, Female

HeLa Cells

Microtubule-Associated Proteins

Exome Sequencing

Oocytes

Alleles

Source

Identifiers

PMID: 40796344
DOI: 10.1093/humrep/deaf158

Genes

DLGAP5
TACC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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