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

• Published in: Gene Vol. 639; pp. 106 - 110
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 10.01.2018
• Subjects: Adult; Cell Cycle Proteins - genetics; Chromosome alignment; Female; HAUS7; Humans; in vitro fertilization; Infertility, Male - genetics; Male; Meiotic maturation; Microtubule-Associated Proteins - genetics; Mutation; Oligospermia - genetics; Pedigree; Pregnancy; Pregnancy Outcome; Reproductive Techniques, Assisted; Severe oligozoospermia; Whole Exome Sequencing; NOA; WES; Meiotic maturation; Whole-exome sequencing; PRL; E2; gnomAD; ICSI; T; ExAC; SNP; HAUS7; Chromosome alignment; IVF; in vitro fertilization; Severe oligozoospermia; FSH; SO; LH; PN
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2017.10.014

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. •We identified a novel gene (HAUS7) and mutation that is associated with severe oligozoospermia.•Whole-exome sequencing (WES) identified a hemizygous mutation in the HAUS7 gene (c.386G>T:p.G129V) in two brothers.•(ICSI) were carried out in two brothers and their wives, but pregnancy were failed after embryos transfers.