A novel mutation in HAUS7 results in severe oligozoospermia in two brothers

作者：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^*

来源：Gene, 2018, 639: 106-110.

DOI：10.1016/j.gene.2017.10.014

• Severe oligozoospermia
• HAUS7
• Whole-exome sequencing
• in vitro fertilization
• Meiotic maturation
• Chromosome alignment

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 from their mother, and this variant was considered to be a highly pathogenic mutation by in silico analysis. Moreover, in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) was carried out in both the proband's wife and the brother's wife, but they failed to become pregnant after the embryo transfers. Therefore, this novel mutation in HAUS7 gene may be associated with severe oligozoospermia.

• 出版日期2018-1-10
• 单位首都医科大学