Article
A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.
Clinical genetics - 1 Feb 2018
Xu X, Sha Y-W, Mei L-B, Ji Z-Y, Qiu P-P, Ji H, Li P, Wang T, Li L
Abstract excerpt
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...
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