Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome

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 whole-exome sequencing in a consanguineous family with two infertile brothers with acephalic spermatozoa syndrome.

Source: The American Journal of Human Genetics - July 19, 2018 Category: Genetics & Stem Cells Authors: Fuxi Zhu, Chao Liu, Fengsong Wang, Xiaoyu Yang, Jingjing Zhang, Huan Wu, Zhiguo Zhang, Xiaojin He, Zhou Zhang, Ping Zhou, Zhaolian Wei, Yongliang Shang, Lina Wang, Ruidan Zhang, Ying-Chun Ouyang, Qing-Yuan Sun, Yunxia Cao, Wei Li Tags: Article Source Type: research