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

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asthenozoospermia / genetics*
  • Asthenozoospermia / pathology
  • Axoneme / genetics
  • Axoneme / pathology
  • Exome Sequencing*
  • Homozygote
  • Humans
  • Infertility, Male / genetics*
  • Infertility, Male / pathology
  • Male
  • Microtubule Proteins / genetics*
  • Mutation
  • Sperm Motility / genetics
  • Spermatozoa / pathology
  • Twin Studies as Topic

Substances

  • Microtubule Proteins
  • SPAG17 protein, human