A new TEX11 mutation causes azoospermia and testicular meiotic arrest

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 testi...

Full description

Saved in:
Bibliographic Details
Published in:Asian journal of andrology 2021-09, Vol.23 (5), p.510-515
Main Authors: Yu, Xiao-Chen, Li, Meng-Jing, Cai, Fei-Fei, Yang, Si-Jie, Liu, Hong-Bin, Zhang, Hao-Bo
Format: Article
Language:English
Subjects:
DNA sequencing
Ethylenediaminetetraacetic acid
Genetic aspects
male infertility
meiotic arrest
nonobstructive azoospermia
testis expressed 11
Mutation
Nucleotide sequencing
Original
Testes
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1008-682X
1745-7262
DOI:10.4103/aja.aja_8_21