• PMID: 28905369
• Gene Name: TSGA10
• Condition: Acephalic spermatozoa, teratozoospermia
• Association: Associated
• Mutation: c.211delG; p.A71Hfs*12
• Population size: 1
• Population details: 1
• Age: 27 yrs
• Sex: Male
• Infertility type: Male infertility
• Associated genes: NGS

TSGA10 is a novel candidate gene associated with acephalic spermatozoa

Sha YW, Sha YK, Ji ZY, Mei LB, Ding L, Zhang Q, Qiu PP, Lin SB, Wang X, Li P, Xu X, Li L.

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. CI - © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. FAU - Sha, Y-W AU - Sha YW AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China. FAU - Sha, Y-K AU - Sha YK AD - Department of Nephrology, First Affiliated Hospital of Jinzhou Medical University, Jinzhou, China. FAU - Ji, Z-Y AU - Ji ZY AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China. FAU - Mei, L-B AU - Mei LB AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China. FAU - Ding, L AU - Ding L AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China. FAU - Zhang, Q AU - Zhang Q AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China. FAU - Qiu, P-P AU - Qiu PP AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China. FAU - Lin, S-B AU - Lin SB AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China. FAU - Wang, X AU - Wang X AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China. FAU - Li, P AU - Li P AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China. FAU - Xu, X AU - Xu X AD - School of Pharmaceutical Sciences, Xiamen University, Xiamen, China.