• PMID: 30390321
• Gene Name: TACR3
• Condition: Non obstructive azoospermia, Male infertility
• Association: Associated
• Mutation: c.G992A (p.W331X)
• Population size: 200
• Population details: 200 infertile men
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Non obstructive azoospermia, Male infertility

A novel stopgain mutation c.G992A (p.W331X) in TACR3 gene was identified in nonobstructive azoospermia by targeted next-generation sequencing

Geng D, Yang X, Wang R, Deng S, Li L, Hu X, Jiang Y, Liu R.

BACKGROUND: Nonobstructive azoospermia (NOA) is one of the most severe forms of male infertility because of impaired spermatogenesis with the absence of spermatozoa in the ejaculate. The causes of this disease can be partly attributed to genetic factors. Some common structural variants and single nucleotide polymorphisms (SNPs) were reported to be associated with NOA. However, the underlying etiology and genetic mechanism(s) remain largely unclear. The aim of this study was to investigate the associated mutations of spermatogenic genes in Chinese infertile men with NOA. METHODS: The entire coding region of 25 genes associated with spermatogenesis was sequenced from 200 infertile men with NOA. Screening was carried out using the targeted exome sequencing to identify genetic variations and SNPs of the entire coding region of these genes. RESULTS: After the targeted exome sequencing data were filtered through several currently existing variation databases, a series of variations were found. In this paper, we report one novel stopgain variation c.G992A (p.W331X) in the exon 4 of TACR3 gene. The variant was heterozygous and categorized as pathogenic. CONCLUSION: In conclusion, our study revealed a novel stopgain mutation c.G992A (p.W331X) in TACR3 which expanded the mutation spectrum of TACR3 in Chinese NOA infertile men and advanced our understanding of the genetic susceptibility to NOA. CI - © 2018 Wiley Periodicals, Inc. FAU - Geng, Dongfeng AU - Geng D AD - Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, China. FAU - Yang, Xiao AU - Yang X AD - Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, China. FAU - Wang, Ruixue AU - Wang R AD - Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, China. FAU - Deng, Shu AU - Deng S AD - Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, China. FAU - Li, Leilei AU - Li L AD - Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, China. FAU - Hu, Xiaonan AU - Hu X AD - Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, China. FAU - Jiang, Yuting AU - Jiang Y AD - Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, China.