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A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole‐exome sequencing
Author(s) -
Xu X.,
Sha Y.W.,
Mei L.B.,
Ji Z.Y.,
Qiu P.p.,
Ji H.,
Li P.,
Wang T.,
Li L.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13059
Subject(s) - asthenozoospermia , exome sequencing , mutation , biology , genetics , male infertility , immunostaining , western blot , in silico , gene , infertility , microbiology and biotechnology , immunology , immunohistochemistry , pregnancy
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 .