Role of testis‑specific serine kinase 1B in undiagnosed male infertility

Kadiyska,Tanya; Tourtourikov,Ivan; Dabchev,Kristiyan; Madzharova,Dilyana; Tincheva,Savina; Spandidos,Demetrios A.; Zoumpourlis,Vassilis

doi:10.3892/mmr.2022.12720

Role of testis‑specific serine kinase 1B in undiagnosed male infertility

Authors:
- Tanya Kadiyska
- Ivan Tourtourikov
- Kristiyan Dabchev
- Dilyana Madzharova
- Savina Tincheva
- Demetrios A. Spandidos
- Vassilis Zoumpourlis
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Affiliations: Department of Physiology and Pathophysiology, Medical University, 1413 Sofia, Bulgaria, Genetic Medico‑Diagnostic Laboratory ‘Genica’, 1612 Sofia, Bulgaria, Laboratory of Clinical Virology, Medical School, University of Crete, Heraklion 71003, Greece, Biomedical Applications Unit, Institute of Chemical Biology, National Hellenic Research Foundation, 11635 Athens, Greece
Published online on: April 27, 2022 https://doi.org/10.3892/mmr.2022.12720
Article Number: 204
Copyright: © Kadiyska et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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 (TSSK1B), which was discovered in a previously diagnosed patient. Sanger sequencing of the coding regions and exon borders of TSSK1B 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 in silico predictors and protein modelling using AlphaFold2. The present findings indicated an association between TSSK1B mutations and asthenoteratozoospermia, with further missense mutations in patients with azoospermia and teratozoospermia. Mutations in TSSK1B may be a cause of undiagnosed cases of male infertility and should be considered when molecular diagnostics are warranted.

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