ArticleJournal of assisted reproduction and genetics2020
Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.
Article in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 47 citations in OpenAlex.
- Role of SPAG6 in regulating physiological functions and tumorigenesis (Review).International journal of oncology · 2026Review
- Artificial oocyte activation technology as adjuvant therapy for primary ciliary dyskinesia: a report of eight cases and literature review.Journal of assisted reproduction and genetics · 2025Review
- IQUB mutation induces radial spoke 1 deficiency causing asthenozoospermia with normal sperm morphology in humans and mice.Cell communication and signaling : CCS · 2025Article
- An integrated analysis of second- and third-generation transcriptome sequencing technologies reveals theAnimal reproduction · 2025Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice.Cellular and molecular life sciences : CMLS · 2023Article
- The impact of primary ciliary dyskinesia on female and male fertility: a narrative review.Human reproduction update · 2023Review
- Novel compound heterozygous mutations inAsian journal of andrology · 2023Article
- Transcriptomic signatures for human male infertility.Frontiers in molecular biosciences · 2023Article
- NovelThe world journal of men's health · 2022Review
- Patient with multiple morphological abnormalities of sperm flagella caused by a novel ARMC2 mutation has a favorable pregnancy outcome from intracytoplasmic sperm injection.Journal of assisted reproduction and genetics · 2022Article
- Ciliary central apparatus structure reveals mechanisms of microtubule patterning.Nature structural & molecular biology · 2022Article
- PCD Genes-From Patients to Model Organisms and Back to Humans.International journal of molecular sciences · 2022Review
- The Ancient and Evolved Mouse Sperm-Associated Antigen 6 Genes Have Different Biologic Functions In Vivo.Cells · 2022Article
- Adolescent Transgender Females Present Impaired Semen Quality That Is Suitable for Intracytoplasmic Sperm Injection Even Before Initiating Gender-Affirming Hormone Treatment.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Identification of bi-allelicFrontiers in endocrinology · 2022Article
- Metabolic Dysregulation and Sperm Motility in Male Infertility.Advances in experimental medicine and biology · 2022Review
- Diagnostics and Management of Male Infertility in Primary Ciliary Dyskinesia.Diagnostics (Basel, Switzerland) · 2021Review
- Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review.Journal of assisted reproduction and genetics · 2021Review
- The effect of a novel LRRC6 mutation on the flagellar ultrastructure in a primary ciliary dyskinesia patient.Journal of assisted reproduction and genetics · 2021Article
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Authors and funding
22 authors at 3 institutions in 1 country.
Funding
Abstract
purposeTo investigate the relation between mutations in ciliopathy-related SPAG6 and RSPH3 and male infertility with severe asthenoteratospermia characterized by multiple flagellar malformations and reveal the intracytoplasmic sperm injection (ICSI) outcomes of those primary ciliary dyskinesia (PCD) patients.
methodsWhole-exome sequencing was applied to identify the pathogenic genes for the five PCD patients. The ICSI outcomes of those patients were compared with eight DNAH1-mutated patients and 215 oligo-asthenospermia (OAT) patients.
resultsWe identified, for the first time, the compound heterozygous SPAG6 mutations (c.143_145del: p.48_49del, c.585delA: p.Lys196Serfs*6) in a sporadic PCD patient. Further, a novel homozygous nonsynonymous RSPH3 mutation (c.C799T: p.Arg267Cys) was identified in another PCD patient with consanguineous parents. The pathogenicity of these mutations in the assembly of sperm flagella was confirmed by flagellar ultrastructure analysis, immunofluorescence, and quantitative real-time PCR. All five patients underwent six ICSI cycles. The fertilization rate, blastocyst development rate, and clinical pregnancy rate were 69.3%, 50.0%, and 66.7%, respectively. Four of the five couples, including the subjects carrying mutations in SPAG6 or RSPH3, got healthy children born after ICSI. Additionally, the ICSI outcomes of the five PCD couples were statistically comparable with those of the eight DNAH1-mutated couples and the 215 OAT couples.
conclusionsMutations in ciliopathy-related SPAG6 and RSPH3 cause severe asthenoteratospermia characterized by multiple flagellar malformations, resulting in sterility. ICSI is an optimal management with a positive pregnancy outcome.
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