Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility

Alexandros G.Sfakianakis shared this article with you from Inoreader Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility Μέσω Human Mutation ABSTRACT Sequence variants of ZMYND15 cause azoospermia in humans, but they have not yet been reported in infertile men with severe oligozoospermia (SO).We performed whole‐exome and Sanger sequencing to identify suspected causative variants in 414 idiopathic participating infertile men with SO or azoospermia. Three novel homozygous truncating variants in ZMYND15 were identified in three of the 219 (1.37%) unrelated patients with SO,including c.1209T>A(p.Tyr403*), c.1650delC (p.Glu551Lysfs*75), and c.1622_1636delinsCCAC (p.Leu541Profs*39). In silico bioinformatic analyses as well as in vivo and in vitro experiments showed that the ZMYND15 variants carried by the affected subjects might be the underling cause for their infertility.One patient accepted intracytoplasmic sperm injection(ICSI) therapy using his ejaculated sperm and his wife successfully became pregnant. Our findings expand the disease phenotype spectrum by indicating that ZMYND15 variants cause SO and male infertility and suggest a possible correlation between the severity of male infertility caused by ZMYND15 variants and male age. This article is protected by copyright. All rights reserved. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.