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Novel MEIOB pathogenic variants including a homozygous non-canonical splicing variant, cause meiotic arrest and human non-obstructive azoospermia.

Clinical genetics - 1 Jan 2024

Zhu Xiaoyu, Hu Kaiqin, Cheng Huiru, Wu Huan, Li Kuokuo, Gao Yang, Lv Mingrong, Xu Chuan, Geng Hao, Shen Qunshan, Cao Yunxia, He Xiaojin, Tang Dongdong, Guo Rui

Abstract excerpt

Non-obstructive azoospermia (NOA) is the most severe form of human male infertility, and the genetic causes of NOA with meiotic arrest remain largely unclear. In this study, we identified novel compound heterozygous MEIOB variants (c.814C > T: p.R272X and c.976G > A: p.A326T) and a previously undescribed homozygous non-canonical splicing variant of MEIOB (c.528 + 3A > C) in two NOA-affected individuals from two...

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PMID: 37715646
DOI: 10.1111/cge.14426

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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