Department of Physiology and Pathophysiology, Medical University, 1413 Sofia, Bulgaria.
Genetic Medico‑Diagnostic Laboratory 'Genica', 1612 Sofia, Bulgaria.
Mol Med Rep. 2022 Jun;25(6). doi: 10.3892/mmr.2022.12720. Epub 2022 Apr 29.
Male infertility is a global problem affecting a considerable part of the male population. Current guidelines and practices aimed at diagnosing the cause of this problem still have low diagnostic yield. As novel candidate genes for infertility emerge, their functional role needs to be investigated in patient populations. The present study aimed to investigate testis‑specific serine kinase 1B (), which was discovered in a previously diagnosed patient. Sanger sequencing of the coding regions and exon borders of was performed in a cohort of 100 male Bulgarian patients with unresolved infertility causes. Missense mutations were discovered in 10% of patients and were associated with clinical data on sperm dysmorphology. Two previously unreported mutations were discovered, p.3D>N and p.52F>L. All mutations were scored via predictors and protein modelling using AlphaFold2. The present findings indicated an association between mutations and asthenoteratozoospermia, with further missense mutations in patients with azoospermia and teratozoospermia. Mutations in may be a cause of undiagnosed cases of male infertility and should be considered when molecular diagnostics are warranted.
男性不育是一个全球性问题，影响了相当一部分男性人群。目前旨在诊断该问题病因的指南和实践仍然具有较低的诊断率。随着新的不育候选基因的出现，需要在患者群体中研究它们的功能作用。本研究旨在研究在先前诊断的患者中发现的睾丸特异性丝氨酸激酶 1B ()。对 100 名患有未明确原因不育的保加利亚男性患者进行了外显子区和外显子边界的编码区 Sanger 测序。在 10%的患者中发现了错义突变，并与精子形态异常的临床数据相关。发现了两个以前未报道的突变，p.3D>N 和 p.52F>L。所有突变均通过 预测因子和使用 AlphaFold2 的蛋白质建模进行评分。本研究结果表明 突变与弱精症和畸形精子症之间存在关联，在无精子症和畸形精子症患者中存在进一步的错义突变。 中的突变可能是男性不育未确诊病例的原因，在需要分子诊断时应予以考虑。
