Article
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
American journal of human genetics - 6 Jan 2022
Tan Chen, Meng Lanlan, Lv Mingrong, He Xiaojin, Sha Yanwei, Tang Dongdong, Tan Yaqi, Hu Tongyao, He Wenbin, Tu Chaofeng, Nie Hongchuan, Zhang Huan, Du Juan, Lu Guangxiu, Fan Li-Qing, Cao Yunxia, Lin Ge, Tan Yue-Qiu
Abstract excerpt
Asthenoteratozoospermia, defined as reduced sperm motility and abnormal sperm morphology, is a disorder with considerable genetic heterogeneity. Although previous studies have identified several asthenoteratozoospermia-associated genes, the etiology remains unknown for the majority of affected men. Here, we performed whole-exome sequencing on 497 unrelated men with asthenoteratozoospermia and identified DNHD1...
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