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

Xu X. | Zendy; Sha Y.W. | Zendy; Mei L.B. | Zendy; Ji Z.Y. | Zendy; Qiu P.p. | Zendy; Ji H. | Zendy; Li P. | Zendy; Wang T. | Zendy; Li L. | Zendy

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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 .

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