ArticleJournal of assisted reproduction and genetics2023
A novel splicing mutation in helicase for meiosis 1 leads to non-obstructive azoospermia.
Article in Journal of assisted reproduction and genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- A novel hemizygous missense variant in the BEND2 gene is associated with nonobstructive azoospermia.Asian journal of andrology · 2026Article
- A homozygous variant in HFM1 causes preimplantation embryo developmental arrest by disrupting zygotic genome activation.Human reproduction (Oxford, England) · 2026Article
- The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.Human reproduction update · 2026Review
- Novel biallelic HFM1 variants cause severe oligozoospermia with favorable intracytoplasmic sperm injection outcome.Asian journal of andrology · 2025Article
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Authors and funding
6 authors.
Funding
Abstract
purposeNon-obstructive azoospermia (NOA) is an essential cause of male infertility for which treatment options are limited. The pathogenic mechanism of NOA, especially idiopathic NOA, remains unclear. Gene variations are associated with the occurrence of NOA. Our study was performed to investigate the genetic causes of NOA.
methodsWhole exome sequencing (WES) was performed in two probands diagnosed with NOA from a Chinese family. Sanger sequencing was applied to verify the pathogenic variants. A minigene assay was carried out to identify the effect of the splicing variants.
resultsWe detected a novel homozygous variant (c.2681-3 T > A) in the HFM1 gene in the two siblings diagnosed with NOA, and their parents carried heterozygous mutations in the same gene. The results of the minigene assay revealed this splicing variant results in exon25 of HFM1 being skipped, leading to a protein truncation (p.Trp894Cysfs*44).
conclusionOur results showed that a deleterious splicing variant in HFM1 was related to NOA in these two patients. This novel variant of HFM1 may serve as a potential genetic biomarker for NOA patients.
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