Article
Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype.
Clinical genetics - 1 Feb 2020
Sha Yanwei, Wang Xiong, Yuan JinTing, Zhu Xingshen, Su Zhiying, Zhang Xuequan, Xu Xiaohui, Wei Xiaoli
Abstract excerpt
Acephalic spermatozoa, characterized by the headless sperm in the ejaculate, is a rare type of teratozoospermia. Here, we recruited two infertile patients with an acephalic spermatozoa phenotype to investigate the genetic pathology of acephalic spermatozoa. Whole-exome sequencing analysis was performed and found mutations in CEP112 in the two patients: homozygous mutation c.496C > T:p.(Arg166X) in exon 5 from P1;...
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