Article
A novel mutation in CFAP58 leads to MMAF in humans and mice by disrupting CP assembly.
Human molecular genetics - 3 Sept 2025
Abbas Tanveer, Zhang Huan, Yin Hao, Ao Ma, Jingwei Ye, Ahmad Nisar, Khan Ranjha, Murtaza Ghulam, Hussain Ansar, Dawar Fazal Rahim, Ali Imtiaz, Zeb Aurang, Shah Wasim, Ma Hui, Zhang Yuanwei, Shi Qinghua
Abstract excerpt
Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of male infertility, linked to defective spermiogenesis. Several flagella-associated proteins have been identified as crucial for the proper organization of the sperm flagellar axoneme. We identify a novel homozygous mutation in the CFAP58 gene (c.562C > T, p. R188*) that co-segregates with the multiple morphological abnormalities...
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