Article
Identification of nonfunctional SPATA20 causing acephalic spermatozoa syndrome in humans.
Clinical genetics - 1 Mar 2023
Wang Xiang, Jiang Chuan, Dai Siyu, Shen Gan, Yang Yihong, Shen Ying
Abstract excerpt
Acephalic spermatozoa syndrome (ASS) is a rare and severe type of teratozoospermia characterized by the predominance of headless spermatozoa in the ejaculate. However, knowledge about the causative genes associated with ASS in humans is limited. Loss-of-function of SPATA20 has been suggested to result in the separation of the sperm head and flagellum in mice, whereas there have been no cases reporting SPATA20...
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