AUTHOR=Xie Xuefeng , Khan Mazhar , Zubair Muhammad , Khan Abbas , Khan Ranjha , Zhou Jianteng , Zhang Yuanwei , Said Muzafar , Khan Sher Ali , Zaman Qamar , Murtaza Ghulam , Khan Muzamil Ahmad , Liu Wei , Hou Xiaoning , Zhang Huan , Xu Bo , Jiang Xiaohua , Bai Shun , Shi Qinghua TITLE=A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans JOURNAL=Frontiers in Genetics VOLUME=13 YEAR=2022 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.1017302 DOI=10.3389/fgene.2022.1017302 ISSN=1664-8021 ABSTRACT=

Non-obstructive azoospermia (NOA) is a severe factor of male infertility; it affects approximately 1% of the global male population and accounts for 40% of male infertility cases. However, the majority of NOA cases remain idiopathic. This is the first study using whole-exome sequencing (WES) to identify a novel missense mutation in the DND1 gene (c.212A>C, p. E71A) from a Pakistani family, that includes three males with NOA. This mutation is predicted to cause DND1 protein misfolding and weaken the DND1 interaction with NANOS2, a significant regulator in primordial germ cell development. Our study identified a DND1 pathogenic mutation in NOA patients and highlighted its critical role in male fertility in humans.