The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia

ConclusionSYCE1 gene encodes synaptonemal complex (SC) central element 1 protein which contributes to the formation of the synaptonemal complex during meiosis. Syce1 null male and female mice have been shown to be infertile. There have only been two reports on  the effects ofSYCE1 mutations in humans; it was shown as the  cause of primary ovarian failure (POI) in one and as the cause of nonobstructive azoospermia (NOA) in another. We suggest that the mutation 375-2A >  G, which affects the acceptor splice site within intron 6 ofSYCE1, is the likely cause of azoospermia and subsequent infertility in the family studied. The finding constitutes the third report ofSYCE1mutations that affect infertility in humans and further supports its contribution to this condition.

Source: Journal of Assisted Reproduction and Genetics - January 7, 2020 Category: Reproduction Medicine Source Type: research