A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing
- 1 February 2018
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 93 (2), 345-349
- https://doi.org/10.1111/cge.13059
Abstract
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.Keywords
Funding Information
- Youth Scientific Research Project of Fujian Provincial Health and Family Planning Commission (2015-2-52 and 2016-2-72)
- Science and Technology Project of Fujian Province (2015D018, 2016D10 and 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)
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