Article
A novel mutation in HAUS7 results in severe oligozoospermia in two brothers.
Gene - 10 Jan 2018
Li Lin, Sha Yan-Wei, Su Zhi-Ying, Mei Li-Bin, Ji Zhi-Yong, Zhang Qing, Lin Shao-Bin, Wang Xu, Qiu Ping-Ping, Li Ping, Yin Chenghong
Abstract excerpt
Severe oligozoospermia (SO) is a common disease resulting in male infertility; however, its pathophysiology remains unclear. Here, we report two brothers with SO. Whole-exome sequencing (WES) identified a hemizygous variant in HAUS7 (c.G386T:p.G129V), an X-linked gene. HAUS7 has been reported to play a role in the meiotic maturation and chromosome alignment of germ cells. The two patients inherited this variant...
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