ArticleJournal of human genetics2021
A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia.
Article in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study.Reproductive biology and endocrinology : RB&E · 2025Pooled it
- Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexes.Journal of assisted reproduction and genetics · 2026Article
- Mechanism and potential therapeutic strategies of genetic abnormalities involved in deoxyribonucleic acid double-strand breaks leading to the development of human non-obstructive azoospermia.Reproductive biology and endocrinology : RB&E · 2026Review
- Double jeopardy: howFrontiers in cell and developmental biology · 2026Review
- Genetic predisposition to polyposis syndromes.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Review
- LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.eLife · 2023Article
- Review
- Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.Cell cycle (Georgetown, Tex.) · 2023Article
- Identification of New Candidate Genes Related to Semen Traits in Duroc Pigs through Weighted Single-Step GWAS.Animals : an open access journal from MDPI · 2023Article
- Infertility in Men: Advances towards a Comprehensive and Integrative Strategy for Precision Theranostics.Cells · 2022Review
- Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.The application of clinical genetics · 2021Review
- The formation and repair of DNA double-strand breaks in mammalian meiosis.Asian journal of andrologyReview
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Male infertility pertains to male's inability to cause pregnancy in a fertile female. It accounts for 40-50% of infertility in human. In the study, presented here, a large consanguineous family of Pakistani origin segregating male infertility in autosomal recessive manner was investigated. Exome sequencing revealed a homozygous frameshift variant [NM_001040108: c.3632delA, p.(Asn1211Metfs*49)] in DNA mismatch repair gene MLH3 (MutL Homolog) that segregated with male infertility within the family. This is the first loss-of-function homozygous variant in the MLH3 gene causing severe oligozoospermia leading to male infertility. Previous studies have demonstrated association of infertility with gene knockout in the mice.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.