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Article

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

Human reproduction (Oxford, England) - 1 Jul 2026

Cai Siying, Li Huiying, Ma Xinlei, Chen Qingchuan, Li Shan, Mei Qiaojuan, Huang Li, Zhang Ling, Li Huaibiao, Zhao Kai, Xiang Wenpei

Abstract excerpt

STUDY QUESTION: Does nucleoporin 205 (NUP205) deficiency caused by a novel de novo truncation mutation underlie the pathogenesis of premature ovarian insufficiency (POI)? SUMMARY ANSWER: NUP205 plays a critical role in ovarian development, and mutations in NUP205 represent a key factor in the pathogenesis of POI. WHAT IS KNOWN ALREADY: POI is a highly heterogeneous disorder with a significant genetic basis. The...

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Source

Identifiers

PMID: 42049205
DOI: 10.1093/humrep/deag068

Genes

NUP205
NUP62
NUP93

Variants

Provenance

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

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