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April 28, 2026

A de novo C-terminal truncation mutation in NUP205 as a key factor in premature ovarian insufficiency.

Siying Cai Hui Li Xinlei Ma Qingchuan Chen S Li Qiaojuan Mei Li Huang Ling Zhang Huaibiao Li Kai Zhao Wenpei Xiang

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Key Points

To investigate whether a de novo truncation mutation in NUP205 contributes to the pathogenesis of premature ovarian insufficiency.
Conducted whole-exome sequencing on a POI pedigree and rescreened WES data from 1030 cases.
Performed functional validation using COV434 cells and an in vivo zebrafish model.
Utilized protein structural modeling and immunofluorescence for assessing NUP205 expression.
Identified a novel nonsense mutation in NUP205 (c.3160C>T; p.R1054*) in the index pedigree, absent in genomic databases.
In vitro knockdown of NUP205 in COV434 cells led to structural defects in nuclear pore complexes.
Zebrafish with the equivalent nup205 mutation showed compromised fertility and abnormal oogenesis.

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Implication

Demonstrates the role of NUP205 mutations in premature ovarian insufficiency, suggesting new genetic insights.

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Cite This Study

Cai et al. (2026) studied this question.

synapsesocial.com/papers/69f444d3967e944ac55679bd https://doi.org/10.1093/humrep/deag068

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