TSGA10 is a novel candidate gene associated with acephalic spermatozoa

Acephalic spermatozoa is a rare teratozoospermia associated with male infertility. However, the pathogenesis of this disorder remains unclear. Here, we report a 27 years old infertile male from a consanguineous family, who presented with 99% headless sperm in his ejaculate. Electron microscopic and...

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Bibliographic Details
Published in:Clinical genetics 2018-04, Vol.93 (4), p.776-783
Main Authors: Sha, Y.‐W., Sha, Y.‐K., Ji, Z.‐Y., Mei, L.‐B., Ding, L., Zhang, Q., Qiu, P.‐P., Lin, S.‐B., Wang, X., Li, P., Xu, X., Li, L.
Format: Article
Language:English
Subjects:
acephalic spermatozoa
Clonal deletion
consanguineous family
Embryo transfer
Gene deletion
Immunofluorescence
In vitro fertilization
Infertility
midpiece
Pregnancy
Proteins
Sperm
TSGA10
whole‐exome sequencing
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Summary:Acephalic spermatozoa is a rare teratozoospermia associated with male infertility. However, the pathogenesis of this disorder remains unclear. Here, we report a 27 years old infertile male from a consanguineous family, who presented with 99% headless sperm in his ejaculate. Electron microscopic and immunofluorescence analysis suggested breakage at the midpiece of the patient's sperm cells. Subsequent whole‐exome sequencing analysis identified a homozygous deletion within TSGA10 (c.211delG; p.A71Hfs*12), which resulted in the production of truncated TSGA10 protein. TSGA10 is a testis‐specific protein that localized to the midpiece in the spermatozoa of a normal control; however, immunostaining failed to detect TSGA10 protein in the patient's sperm. Western blot analysis also showed complete absence of TSGA10 protein in the patient. One cycle of in vitro fertilization‐assisted reproduction was conducted, but pregnancy was not achieved after embryo transfer, possibly due to poor embryo quality. Therefore, we speculate that the presence of rare sequence variants within TSGA10 may be associated with acephalic spermatozoa in humans. Acephalic spermatozoa due to biallelic TSGA10 mutation.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13140