• PMID: 29017965
• Gene Name: HAUS7
• Condition: Severe oligozoospermia, male infertility
• Association: Associated
• Mutation: c.G386T:p.G129V
• Population size: 2
• Population details: 2 brothers with severe oligozoospermia and male infertility
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Severe oligozoospermia, male infertility

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

Li L, Sha YW, Su ZY, Mei LB, Ji ZY, Zhang Q, Lin SB, Wang X, Qiu PP, Li P, Yin C.

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. CI - Copyright © 2017 Elsevier B.V. All rights reserved. FAU - Li, Lin AU - Li L AD - Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing 100026, China. Electronic address: linlithu@163.com. FAU - Sha, Yan-Wei AU - Sha YW AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Su, Zhi-Ying AU - Su ZY AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Mei, Li-Bin AU - Mei LB AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Ji, Zhi-Yong AU - Ji ZY AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Zhang, Qing AU - Zhang Q AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Lin, Shao-Bin AU - Lin SB AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Wang, Xu AU - Wang X AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Qiu, Ping-Ping AU - Qiu PP AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Li, Ping AU - Li P AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. Electronic address: Saarc2001@sina.com.