Loss‐of‐function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype
Abstract
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; and the biallelic mutations...
Paper Details
Title
Loss‐of‐function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype
Published Date
Nov 24, 2019
Journal
Volume
97
Issue
2
Pages
321 - 328
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