A novel homozygous variant of AURKC causes macrozoospermia in a Chinese family.

IF 2 4区医学 Q3 ANDROLOGY

Systems Biology in Reproductive Medicine Pub Date : 2026-12-01 Epub Date: 2026-01-13 DOI:10.1080/19396368.2025.2599832

Jian Zhang, Yijia Zhao, Liwen Deng, Yuchun Wu, Rong Li, Binbin Wang

引用次数: 0

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. Segregation of the AURKC c.253G > A variant within the family was confirmed by Sanger sequencing, and In silico prediction tools suggested that the variant is pathogenic. Sperm ultrastructural abnormalities in the patient were further examined using transmission electron microscopy. Our findings identify a novel pathogenic AURKC variant associated with macrozoospermia, providing potential value for genetic diagnosis and clinical management.

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一种新的AURKC纯合变异导致中国一个家庭的巨精子症。

巨动精子症是一种罕见的男性不育症，其特点是精子比例高，头部大，不规则。在这项研究中，我们利用全外显子组测序在中国不育男性中发现了一种新的纯合子极光激酶C （AURKC）错义变异（C . 253g > a (p.Glu85Lys)）。Sanger测序证实了AURKC c.253G > A变体在家族中的分离，并且计算机预测工具表明该变体具有致病性。透射电镜观察患者精子超微结构异常。我们的研究发现了一种与巨精子症相关的新的致病AURKC变异，为遗传诊断和临床管理提供了潜在的价值。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Systems Biology in Reproductive Medicine 医学-男科学

CiteScore

4.30

自引率

4.20%

发文量

审稿时长

>12 weeks

期刊介绍： Systems Biology in Reproductive Medicine, SBiRM, publishes Research Articles, Communications, Applications Notes that include protocols a Clinical Corner that includes case reports, Review Articles and Hypotheses and Letters to the Editor on human and animal reproduction. The journal will highlight the use of systems approaches including genomic, cellular, proteomic, metabolomic, bioinformatic, molecular, and biochemical, to address fundamental questions in reproductive biology, reproductive medicine, and translational research. The journal publishes research involving human and animal gametes, stem cells, developmental biology and toxicology, and clinical care in reproductive medicine. Specific areas of interest to the journal include: male factor infertility and germ cell biology, reproductive technologies (gamete micro-manipulation and cryopreservation, in vitro fertilization/embryo transfer (IVF/ET) and contraception. Research that is directed towards developing new or enhanced technologies for clinical medicine or scientific research in reproduction is of significant interest to the journal.