Article
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
American journal of human genetics - 3 Sept 2020
He Xiaojin, Liu Chunyu, Yang Xiaoyu, Lv Mingrong, Ni Xiaoqing, Li Qiang, Cheng Huiru, Liu Wangjie, Tian Shixiong, Wu Huan, Gao Yang, Yang Chenyu, Tan Qing, Cong Jiangshan, Tang Dongdong, Zhang Jingjing, Song Bing, Zhong Yading, Li Hang, Zhi Weiwei, Mao Xiaohong, Fu Feifei, Ge Lei, Shen Qunshan, Zhang Manyu, Saiyin Hexige, Jin Li, Xu Yuping, Zhou Ping, Wei Zhaolian, Zhang Feng, Cao Yunxia
Abstract excerpt
Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenoteratozoospermia. Although recent studies have revealed several MMAF-associated genes and demonstrated MMAF to be a genetically heterogeneous disease, at least one-third of the cases are still not well understood for their etiology. Here, we identified bi-allelic loss-of-function variants in CFAP58 by using whole-exome...
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