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

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 pro...

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Published inClinical genetics Vol. 93; no. 2; pp. 345 - 349
Main Authors Xu, X., Sha, Y.‐W., Mei, L.‐B., Ji, Z.‐Y., Qiu, P.‐p., Ji, H., Li, P., Wang, T., Li, L.
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.02.2018
Subjects
asthenozoospermia
axoneme
Flagella
Infertility
Mutation
Pathogenesis
Proteins
SPAG17
whole‐exome sequencing
SPAG17
flagella
asthenozoospermia
whole-exome sequencing
axoneme
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Summary: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.
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ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13059