A new TEX11 mutation causes azoospermia and testicular meiotic arrest  

作　　者：Xiao-Chen Yu Meng-Jing Li Fei-Fei Cai Si-Jie Yang Hong-Bin Liu Hao-Bo Zhang 

机构地区：[1]Center for Reproductive Medicine,Cheeloo College of Medicine,Shandong University,Jinan 250012,China [2]Key Laboratory of Reproductive Endocrinology of Ministry of Education,Shandong University,Jinan 250012,China [3]Shandong Key Laboratory of Reproductive Medicine,Jinan 250012,China [4]Shandong Provincial Clinical Research Center for Reproductive Health,Jinan 25CX312,China [5]National Research Center for Assisted Reproductive Technology and Reproductive Genetics,Shandong University,Jinan 250012,China

出　　处：《Asian Journal of Andrology》2021年第5期510-515,共6页亚洲男性学杂志（英文版）

基　　金：the Key Research and Development Program of Shandong Province(2019GSF108237);the Young Scholars Program of Shandong University(2016WLJH50);the Natural Science Foundation of Shandong Province(ZR2017MH049).

摘　　要：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.

关 键 词：male infertility meiotic arrest nonobstructive azoospermia testis expressed 11 

分 类 号：R697[医药卫生—泌尿科学]