• PMID: 29551503
• Gene Name: TDRD6
• Condition: Oligoasthenoteratozoospermia, Male infertility, embryonic lethality
• Association: Associated
• Mutation: c.1259A>G:p.Y420C
• Population size: 1
• Population details: 1 patient with oligoasthenoteratozoospermia
• Age: 38yrs
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Oligoasthenoteratozoospermia, Male infertility, embryonic lethality

TDRD6 is associated with oligoasthenoteratozoospermia by sequencing the patient from a consanguineous family

Sha YW, Wang X, Su ZY, Wang C, Ji ZY, Mei LB, Zhang L, Deng BB, Huang XJ, Yan W, Chen J, Li P, Cui YQ, Qu QL, Yin C, He XM.

Oligoasthenoteratozoospermia (OAT) is characterized as low sperm count, decreased sperm motility and structural abnormalities of the sperm head in the same patient. However, very few studies reported the genetic alterations associated with OAT. Here we report a 38-year-old patient with OAT from a consanguineous family, with 2-6 million/mL sperm density, 2.1-3.8% normal sperm morphology and immotile sperm. Whole-exome sequencing (WES) identified homozygous variant c.1259A>G:p.Y420C in the TDRD6 gene. TDRD6 is a testis-specific expressed protein that was localized to the chromatoid bodies in germ cells and played an important role in the nonsense-mediated decay pathway. This rare variant co-segregated with the OAT phenotype in this family. Bioinformatic analysis also suggested the variant a pathogenic mutation. Two intracytoplasmic sperm injection (ICSI) cycles were carried out in the patient's wife, but she did not become pregnant after embryo transfer. So the mutations in TDRD6 may be associated with human male infertility and early embryonic lethality. CI - Copyright © 2018. Published by Elsevier B.V. FAU - Sha, Yan-Wei AU - Sha YW AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Wang, Xiong AU - Wang X AD - Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong 264000, China. FAU - Su, Zhi-Ying AU - Su ZY AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Wang, Chengrong AU - Wang C AD - Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing 100026, China. FAU - Ji, Zhi-Yong AU - Ji 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 - Zhang, Ling AU - Zhang L AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Deng, Bing-Bing AU - Deng BB AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Huang, Xian-Jing AU - Huang XJ AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Yan, Wei AU - Yan W AD - Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong 264000, China. FAU - Chen, Jie AU - Chen J AD - Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong 264000, China. FAU - Li, Ping AU - Li P AD - Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China. FAU - Cui, Yuan-Qing AU - Cui YQ AD - Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong 264000, China. FAU - Qu, Qing-Lan AU - Qu QL AD - Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong 264000, China. Electronic address: qqlforever@163.com. FAU - Yin, Chenghong AU - Yin C AD - Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing 100026, China. Electronic address: modscn@126.com.