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01.12.2018 | Case report | Ausgabe 1/2018 Open Access

BMC Medical Genetics 1/2018

A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review

Zeitschrift:
BMC Medical Genetics > Ausgabe 1/2018
Autoren:
Yanwei Sha, Liangkai Zheng, Zhiyong Ji, Libin Mei, Lu Ding, Shaobin Lin, Xu Wang, Xiaoyu Yang, Ping Li

Abstract

Background

Testis-expressed gene 11 (TEX11) is an X-linked gene and essential for meiotic recombination and chromosomal synapsis. TEX11 deficiency causes meiotic arrest and male infertility, and many TEX11 mutations have been found in azoospermic and infertile men.

Case presentation

This study reported one novel TEX11 mutation (2653G → T, in exon 29, GenBank accession number, NM_031276) in two brothers with azoospermia. This mutation was firstly screened out by whole-exome sequencing (WES) and further verified by amplifying and sequencing the specific exon 29. Surprisingly, the same exonic missense mutation (W856C) was observed in two brothers but not in their mother. Histological analysis of testicular biopsy from both brothers revealed meiotic arrest and no post-meiotic round spermatids and mature spermatozoa were observed in the seminiferous tubules. TEX11 expression was observed strongly in spermatogonia and weakly in spermatocytes, but not in Sertoli cells and interstitial cells.

Conclusions

We identified one novel TEX11 mutation in two brothers and summarized the literature regarding TEX11 mutations and male infertility. This study and previous literature indicate that TEX11 mutations are closely associated with male infertility, especially azoospermia, although auxiliary clinical analyses are needed to figure out the causes of male infertility.
Literatur
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