Journal
CLINICAL GENETICS
Volume 93, Issue 2, Pages 345-349Publisher
WILEY
DOI: 10.1111/cge.13059
Keywords
asthenozoospermia; axoneme; flagella; SPAG17; whole-exome sequencing
Categories
Funding
- Youth Scientific Research Project of Fujian Provincial Health and Family Planning Commission [2015-2-52, 2016-2-72]
- Science and Technology Project of Fujian Province [2015D018, 2016D10, 2017D011]
- Xiamen Science and Technology Planning Project [3502Z20154033]
- Major/Important Disease Research Project [3502Z20159022]
- Young/Middle-aged Talent Cultivation Project [2015-ZQN-JC-44]
- Open Project of Key Laboratory of Male Reproductive and Genetics
- National Health and Family Planning Commission [KF201704]
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available