A novel homozygous variant of AURKC causes macrozoospermia in a Chinese family.
Jian Zhang, Yijia Zhao, Liwen Deng et al.
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From the abstract
Macrozoospermia is a rare cause of male infertility characterized by a high proportion of sperm with large, irregular heads. In this study, we identified a novel homozygous Aurora kinase C ( AURKC ) missense variant (c.253G > A (p.Glu85Lys)) in a Chinese infertile man using whole-exome sequencing.