ReviewBMC medical genetics2018
A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review.
Review in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 74 citations in OpenAlex.
- Variants in ZZS Complex-Associated Genes TEX11 and M1AP Are Responsible for Male Infertility and Nonobstructive Azoospermia.Andrology · 2026Article
- Gene therapy for non-obstructive azoospermia: therapeutic avenues and translational pathway to clinical application.Frontiers in genome editing · 2026Review
- Exploring the prognostic value and biomarker of TEX11 in breast cancer via PANoptosis.Breast cancer (Tokyo, Japan) · 2026Article
- Male infertility.Systems biology in reproductive medicine · 2025Review
- Genomic aspects in reproductive medicine.Clinical and experimental reproductive medicine · 2024Article
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- Recent advances in mechanisms ensuring the pairing, synapsis and segregation of XY chromosomes in mice and humans.Cellular and molecular life sciences : CMLS · 2024Review
- A partial deletion within the meiosis-specific sporulation domain SPO22 of Tex11 is not associated with infertility in mice.PloS one · 2024Article
- From Diagnosis to Treatment: Comprehensive Care by Reproductive Urologists in Assisted Reproductive Technology.Medicina (Kaunas, Lithuania) · 2023Review
- Genomic analysis reveals a cryptic pangolin species.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Deciphering the Molecular Characteristics of Human Idiopathic Nonobstructive Azoospermia from the Perspective of Germ Cells.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.Cell cycle (Georgetown, Tex.) · 2023Article
- Novel mutations ofFrontiers in endocrinology · 2023Article
- Genetic Implications of Male-Reproductive-Health-Associated Comorbidities.Turkish journal of urology · 2022Article
- Male infertility and the impact of lifestyle in the Greek population: A case-control study.Health science reports · 2022Article
- Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia.Reproductive biology and endocrinology : RB&E · 2022Article
- Identification and functional analysis ofFrontiers in physiology · 2022Article
- The Zip4 protein directly couples meiotic crossover formation to synaptonemal complex assembly.Genes & development · 2022Article
- Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?Basic and clinical andrology · 2021Article
- Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients' and Offspring Health.Journal of clinical medicine · 2021Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTestis-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.
conclusionsWe 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.
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