Article
Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome.
American journal of human genetics - 2 Aug 2018
Zhu Fuxi, Liu Chao, Wang Fengsong, Yang Xiaoyu, Zhang Jingjing, Wu Huan, Zhang Zhiguo, He Xiaojin, Zhang Zhou, Zhou Ping, Wei Zhaolian, Shang Yongliang, Wang Lina, Zhang Ruidan, Ouyang Ying-Chun, Sun Qing-Yuan, Cao Yunxia, Li Wei
Abstract excerpt
Acephalic spermatozoa syndrome is a severe teratozoospermia that leads to male infertility. Our previous work showed that biallelic SUN5 mutations are responsible for acephalic spermatozoa syndrome in about half of affected individuals, while pathogenic mechanisms in the other individuals remain to be elucidated. Here, we identified a homozygous nonsense mutation in the testis-specific gene PMFBP1 using...
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