ORIGINAL ARTICLE
Year : 2021  |  Volume : 23  |  Issue : 5  |  Page : 510-515

A new TEX11 mutation causes azoospermia and testicular meiotic arrest


1 Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan 250012, China Key Laboratory of Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan 250012, China Shandong Key Laboratory of Reproductive Medicine, Jinan 250012, China Shandong Provincial Clinical Research Center for Reproductive Health, Jinan 250012, China National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan 250012, China

Correspondence Address:
Hao-Bo Zhang
Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan 250012; Key Laboratory of Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan 250012; Shandong Key Laboratory of Reproductive Medicine, Jinan 250012; Shandong Provincial Clinical Research Center for Reproductive Health, Jinan 250012
China
Hong-Bin Liu
Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan 250012; Key Laboratory of Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan 250012; Shandong Key Laboratory of Reproductive Medicine, Jinan 250012; Shandong Provincial Clinical Research Center for Reproductive Health, Jinan 250012; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan 250012
China
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/aja.aja_8_21

Rights and Permissions

There are many unknown genetic factors that lead to infertility in nonobstructive azoospermia men. Here, we performed whole-exome sequencing in blood samples obtained from 40 azoospermia patients with meiotic arrest and found a novel c.151_154del (p.D51fs) frame-shift mutation in exon 3 of the testis expressed 11 (TEX11) gene in one patient. Sanger sequencing analysis of the patient and 288 fertile men was performed to validate the mutation. Immunohistochemical analysis showed TEX11 expression in late-pachytene spermatocytes and in round spermatids in fertile human testes. In contrast, testes of the patient with TEX11 mutation underwent meiotic arrest and lacked TEX11 expression. Western blotting of human embryonic kidney (HEK293) cells transfected with a vector for the p.D51fs TEX11 variant detected no TEX11 expression. In conclusion, we identified a novel frame-shift mutation in the TEX11 gene in an azoospermia patient, emphasizing that this gene should be included in genetic screening panels for the clinical evaluation of azoospermia patients.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed2846    
    Printed133    
    Emailed0    
    PDF Downloaded255    
    Comments [Add]    
    Cited by others 3    

Recommend this journal