Background: Acephalic spermatozoa syndrome (ASS) is an extremely rare form of severe teratozoospermia, where in most of the sperm either appear to lack heads or have disconnected or poorly connected heads and tails.
Case Summary: We reported the case of a male patient with secondary infertility whose sperm showed typical ASS upon morphological analysis. Whole-exome sequencing was performed on the patient's peripheral blood, which revealed two heterozygous variants of the gene: c.414+1G>T (p.?) and c.393del (p.C132Afs*3).
Conclusion: It is speculated that the compound homozygous mutation of may be the cause of ASS. We conducted a literature review in order to provide the basis for genetic counseling and clinical diagnosis of patients with ASS.
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| http://dx.doi.org/10.12998/wjcc.v10.i34.12761 | DOI Listing |
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A homozygous loss-of-function mutation in CEP250 is associated with acephalic spermatozoa syndrome in humans.
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Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.
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- * Research using knockout (KO) mice lacking the Ccdc188 gene revealed that this gene is essential for male fertility, as these mice produced mostly acephalic sperm and were sterile.
- * The study also showed that while the HTCA could assemble without CCDC188, it was unable to attach properly to the nucleus during sperm development, causing separation of the sperm head and neck, and a lack of mitochondrial sheath in the sperm.
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