Advanced reproductive technologies are utilized to identify the genetic mutations that lead to spermatogenic impairment, and allow informed genetic counseling to patients to prevent the transmission of genetic defects to offspring. The purpose of this study was to identify potential single nucleotide polymorphisms (SNPs) associated with male infertility. Genetic variants that may cause infertility are identified by combining the targeted next-generation sequencing (NGS) panel and whole exome sequencing (WES). The validation step of Sanger sequencing adds confidence to the identified variants. Our analysis revealed five distinct affected genes covering seven SNPs based on the targeted NGS panel and WES data: SPATA16 (rs16846616, 1515442, 1515441), CFTR (rs213950), KIF6 (rs2273063), STPG2 (r2903150), and DRC7 (rs3809611). Infertile men have a higher mutation rate than fertile men, especially those with azoospermia. These findings strongly support the hypothesis that the dysfunction of microtubule-related and spermatogenesis-specific genes contributes to idiopathic male infertility. The SPATA16, CFTR, KIF6, STPG2, and DRC7 mutations are associated with male infertility, specifically azoospermia, and a further examination of this genetic function is required.
International journal of molecular sciences. 2023 Oct 19*** epublish ***
Chying-Chyuan Chan, Te-Hsin Yen, Hao-Chen Tseng, Brang Mai, Pin-Kuan Ho, Jian-Liang Chou, Gwo-Jang Wu, Yu-Chuan Huang
Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei 114201, Taiwan., Department of Obstetrics and Gynecology, Taipei City Hospital-Renai Branch, Taipei 103212, Taiwan., School of Pharmacy, National Defense Medical Center, Taipei 114201, Taiwan., School of Dentistry, National Defense Medical Center, Taipei 114201, Taiwan.