School of Medicine, Southern University of Science and Technology, Shenzhen 518055, China.
Key University Laboratory of Metabolism and Health of Guangdong, Southern University of Science and Technology, Shenzhen 518055, China.
Genes (Basel). 2024 Oct 13;15(10):1315. doi: 10.3390/genes15101315.
Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific form of severe flagellar or ciliary deficiency syndrome. MMAF is characterized by primary infertility with abnormal morphology in the flagella of spermatozoa, presenting with short, absent, bent, coiled, and irregular flagella. As a rare disease first named in 2014, studies in recent years have shed light on the molecular defects of MMAF that comprise the structure and biological function of the sperm flagella. Understanding the molecular genetics of MMAF may provide opportunities for the development of diagnostic and therapeutic strategies for this rare disease. This review aims to summarize current studies regarding the molecular pathogenesis of MMAF and describe strategies of genetic counseling, clinical diagnosis, and therapy for MMAF.
多形性精子鞭毛异常（MMAF）是一种严重的鞭毛或纤毛缺陷综合征的特殊形式。MMAF 的特征是原发性不育，精子鞭毛形态异常，表现为短、缺失、弯曲、卷曲和不规则鞭毛。作为一种 2014 年首次命名的罕见疾病，近年来的研究揭示了 MMAF 的分子缺陷，包括精子鞭毛的结构和生物学功能。了解 MMAF 的分子遗传学可能为这种罕见疾病的诊断和治疗策略的发展提供机会。本综述旨在总结 MMAF 的分子发病机制的现有研究，并描述 MMAF 的遗传咨询、临床诊断和治疗策略。
