• PMID: 28548327
• Gene Name: SPAG17
• Condition: Asthenozoospermia
• Association: Associated
• Mutation: c.G4343A, p.R1448Q
• Population size: 2
• Population details: 2 cases
• Sex: Male
• Infertility type: Male infertility
• Associated genes: NGS

A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing

Xu X, Sha YW, Mei LB, Ji ZY, Qiu PP, Ji H, Li P, Wang T, Li L.

Asthenozoospermia (AZS) is a common cause of male infertility, characterized by abnormal reduction in the motility of ejaculated spermatozoa. Here, in a patient from a consanguineous family, we identified a homozygous mutation (c.G4343A, p.R1448Q) in SPAG17 by whole-exome sequencing. The encoded protein, SPAG17, localizes to the axonemal central apparatus and is considered essential for flagellar waveform. In silico analysis revealed that R1448Q is a potential pathogenic mutation. Immunostaining and western blot assays showed that the R1448Q mutation may exert a negative effect on the steady-state of the SPAG17 protein. Therefore, SPAG17 may be a new pathogenic gene causing AZS. CI - © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. FAU - Xu, X AU - Xu X AD - School of Pharmaceutical Sciences, Xiamen University, Xiamen, China. FAU - Sha, Y-W AU - Sha YW 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 - Ji, Z-Y AU - Ji ZY 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 - Ji, H AU - Ji H 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 - Wang, T AU - Wang T AD - School of Pharmaceutical Sciences, Xiamen University, Xiamen, China.