ArticleMolecular genetics & genomic medicine2021
Patient with CATSPER3 mutations-related failure of sperm acrosome reaction with successful pregnancy outcome from intracytoplasmic sperm injection (ICSI).
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Gene set enrichment analysis of curated monogenic loci highlights key pathways and multisystem involvement in male infertility.Basic and clinical andrology · 2026Article
- Article
- Molecular basis of the higher-order assembly of CatSper.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- ARMH2 is a cytosolic component of CatSper crucial for sperm function.Nature communications · 2025Article
- Involvement ofF&S reports · 2024Article
- The Detection of CatSper1 and CatSper3 Expression in Men with Normozoospermia and Asthenoteratozoospermia and Its Association with Sperm Parameters, Fertilization Rate, Embryo Quality.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation.The Journal of clinical investigation · 2024Article
- The Chemosensing Role of CatSper in Mammalian Sperm: An Updated Review.Current issues in molecular biology · 2023Review
- Live motile sperm sorting device for enhanced sperm-fertilization competency: comparative analysis with density-gradient centrifugation and microfluidic sperm sorting.Journal of assisted reproduction and genetics · 2023Article
- Article
- Article
- Successful Results of Intracytoplasmic Sperm Injection of a Chinese Patient With Multiple Morphological Abnormalities of Sperm Flagella Caused by a Novel Splicing Mutation inFrontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis study is intended to investigate the candidate pathogenic gene in a patient with primary infertility but without the defect in routine semen parameters from a consanguineous family and explore the potential impacts of mutations on assisted reproductive technology outcome.
methodsWhole-exome sequencing (WES) was carried out. A variant in his family found by WES was verified by Sanger sequencing. Intracytoplasmic sperm injection (ICSI) was applied to obtain a successful outcome.
resultsA Cation Channel of Sperm 3(CATSPER3) homozygous variant (NM_ 178019.3:exon5:c.707T>A, p.L236*) was identified for the first time. The anti-CD46 immunofluorescence analysis revealed the failure of sperm acrosome reaction (AR) caused by the mutation. ICSI treatment was successful.
conclusionThis is the first report of a homozygous pathogenic CATSPER3 mutation. This mutation may cause male infertility with the failure of AR but without the defect in routine semen parameters. ICSI was supposed to be the most appropriate therapy.
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