Article
Loss of Different Domains of TDRD12 Leads to Distinct Male Infertility-Related Phenotypes.
Clinical genetics - 1 Feb 2026
Tang Xinyao, Li Jinhui, Tian Yunchuan, Zhao Chanjuan, Jiang Xiaohui, Jiang Chuan, Wang Xiang, Ma Jun, Zhang Yingteng, Ruan Tiechao, Zhao Guicheng, Yang Yihong, Shen Ying
Abstract excerpt
Tdrd12 is known to play an important role in spermatogenesis in mice. However, evidence linking TDRD12 mutations to male azoospermia is limited, and no cases of TDRD12-related teratozoospermia have been reported. We identified two novel homozygous TDRD12 mutations (c.3378dupG and c.2463C>G) in two unrelated infertile men, respectively. Patient 1 carried a TDRD12 frameshift mutation (c.3378dupG), resulting in a...
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