Article
Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
Journal of medical genetics - 1 Jul 2020
Lv Mingrong, Liu Wangjie, Chi Wangfei, Ni Xiaoqing, Wang Jiajia, Cheng Huiru, Li Wei-Yu, Yang Shenmin, Wu Huan, Zhang Junqiang, Gao Yang, Liu Chunyu, Li Caihua, Yang Chenyu, Tan Qing, Tang Dongdong, Zhang Jingjing, Song Bing, Chen Yu-Jie, Li Qiang, Zhong Yading, Zhang Zhihua, Saiyin Hexige, Jin Li, Xu Yuping, Zhou Ping, Wei Zhaolian, Zhang Chuanmao, He Xiaojin, Zhang Feng, Cao Yunxia
Abstract excerpt
BACKGROUND: Asthenoteratospermia, one of the most common causes for male infertility, often presents with defective sperm heads and/or flagella. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the common clinical manifestations of asthenoteratospermia. Variants in several genes including DNAH1, CEP135, CATSPER2 and SUN5 are involved in the genetic pathogenesis of asthenoteratospermia....
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