Article
STX2 is a causative gene for nonobstructive azoospermia.
Human mutation - 1 Jun 2018
Nakamura Shigeru, Kobori Yoshitomo, Ueda Yoshihiko, Tanaka Yoko, Ishikawa Hiromichi, Yoshida Atsumi, Katsumi Momori, Saito Kazuki, Nakamura Akie, Ogata Tsutomu, Okada Hiroshi, Nakai Hideo, Miyado Mami, Fukami Maki
Abstract excerpt
STX2 encodes a sulfoglycolipid transporter. Although Stx2 nullizygosity is known to cause spermatogenic failure in mice, STX2 mutations have not been identified in humans. Here, we performed STX2 mutation analysis for 131 Japanese men clinically diagnosed with nonobstructive azoospermia. As a result, we identified a homozygous frameshift mutation [c.8_12delACCGG, p.(Asp3Alafs*8)] in one patient. The...
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