Ontology highlight
ABSTRACT:
SUBMITTER: Zhu F
PROVIDER: S-EPMC5065659 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Zhu Fuxi F Wang Fengsong F Yang Xiaoyu X Zhang Jingjing J Wu Huan H Zhang Zhou Z Zhang Zhiguo Z He Xiaojin X Zhou Ping P Wei Zhaolian Z Gecz Jozef J Cao Yunxia Y
American journal of human genetics 20160915 4
Acephalic spermatozoa syndrome is a rare and severe form of teratozoospermia characterized by a predominance of headless spermatozoa in the ejaculate. Family clustering and consanguinity suggest a genetic origin; however, causative mutations have yet to be identified. We performed whole-exome sequencing in two unrelated infertile men and subsequent variant filtering identified one homozygous (c.824C>T [p.Thr275Met]) and one compound heterozygous (c.1006C>T [p.Arg356Cys] and c.485T>A [p.Met162Lys ...[more]