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. 2018 Feb;93(2):345-349.
doi: 10.1111/cge.13059. Epub 2017 Sep 4.

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

X Xu  1 , Y-W Sha  2 , L-B Mei  2 , Z-Y Ji  2 , P-P Qiu  2 , H Ji  2 , P Li  2 , T Wang  1 , L Li  3
Affiliations

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

X Xu et al. Clin Genet. 2018 Feb.

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: SPAG17; asthenozoospermia; axoneme; flagella; whole-exome sequencing.

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