Article
Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia.
Clinical genetics - 1 Oct 2021
Wei Xiaoli, Liu Wensheng, Zhu Xingshen, Li Youzhu, Zhang Xiaoya, Chen Jing, Isachenko Vladimir, Sha Yanwei, Lu Zhongxian
Abstract excerpt
Oligo-astheno-teratozoospermia (OAT) is a common cause of male infertility, and most of idiopathic OAT patients are thought to be caused by genetic defects. Here, we recruited 38 primary infertile patients with the OAT phenotype and 40 adult men with proven fertility for genetic analysis and identified biallelic mutations of KATNAL2 by whole-exome sequencing in two cases. F013/II:1, from a consanguineous family,...
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