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A novel homozygous mutation in ACTL7A leads to male infertility.

Molecular genetics and genomics : MGG - 1 Mar 2023

Zhou Xiaopei, Xi Qingsong, Jia Weimin, Li Zhou, Liu Zhenxing, Luo Geng, Xing Chenxi, Zhang Dazhi, Hou Meiqi, Liu Huihui, Yang Xue, Luo Yalin, Peng Xuejie, Wang Guihua, Zou Tingting, Zhu Lixia, Jin Lei, Zhang Xianqin

Abstract excerpt

Male infertility, a global public health problem, exhibits complex pathogenic causes and genetic factors deserve further discovery and study. We identified a novel homozygous missense mutation c.224A > C (p.D75A) in ACTL7A gene in two infertile brothers with teratozoospermia by whole-exome sequencing (WES). In vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) showed fertilization failure of...

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PMID: 36574082
DOI: 10.1007/s00438-022-01985-0

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