Article
Deleterious variant in FAM71D cause male infertility with asthenoteratospermia.
Molecular genetics and genomics : MGG - 15 Mar 2024
Zhu Xiaobin, Liu Liu, Tian Shixiong, Zhao Guijun, Zhi Erlei, Chen Qian, Zhang Feng, Zhang Aijun, Tang Shuyan, Liu Chunyu
Abstract excerpt
Asthenoteratospermia is a significant cause of male infertility. FAM71D (Family with sequence similarity 71, member D), as a novel protein exclusively expressed in the testis, has been found to be associated with sperm motility. However, the association of FAM71D mutation with male infertility has yet to be examined. Here, we conducted whole-exome sequencing and identified a homozygous missense mutation...
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