Genes 2024, 15(10), 1315; https://doi.org/10.3390/genes15101315 (registering DOI) - 13 Oct 2024
Abstract
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
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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.
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(This article belongs to the Special Issue Molecular Basis of Rare Genetic Diseases)
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