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Article

A homozygous frameshift variant in SYCP2 caused meiotic arrest and non-obstructive azoospermia.

Clinical genetics - 1 Nov 2023

Xu Junwei, Sun Yifan, Zhang Yuxiang, Ou Ningjing, Bai Haowei, Zhao Jingpeng, Xu Shuai, Luo Jiaqiang, Han Sha, Li Peng, Tian Ruhui, Zhi Erlei, Huang Yuhua, Zhang Jing, Liu Gang, Li Zheng, Yao Chencheng

Abstract excerpt

Genetic causation for the majority of non-obstructive azoospermia (NOA) remains unclear. Mutations in synaptonemal complex (SC)-associated genes could cause meiotic arrest and NOA. Previous studies showed that heterozygous truncating variants in SYCP2 encoding a protein essential for SC formation, are associated with non-obstructive azoospermia and severe oligozoospermia. Herein, we showed a homozygous...

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PMID: 37337432
DOI: 10.1111/cge.14392

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