Ontology highlight
ABSTRACT:
SUBMITTER: Zhu F
PROVIDER: S-EPMC6080767 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Zhu Fuxi F Liu Chao C Wang Fengsong F Yang Xiaoyu X Zhang Jingjing J Wu Huan H Zhang Zhiguo Z He Xiaojin X Zhang Zhou Z Zhou Ping P Wei Zhaolian Z Shang Yongliang Y Wang Lina L Zhang Ruidan R Ouyang Ying-Chun YC Sun Qing-Yuan QY Cao Yunxia Y Li Wei W
American journal of human genetics 20180719 2
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 ...[more]