ArticleReproductive biology and endocrinology : RB&E2021
Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia.
Article in Reproductive biology and endocrinology : RB&E, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Meta-analysis of Transcriptomic Data from Lung Autopsy and Cellular Models of SARS-CoV-2 Infection.Biochemical genetics · 2024Pooled it
- Rare missense variants identified by whole-genome sequencing in men with oligoasthenoteratozoospermia: An experimental study.International journal of reproductive biomedicine · 2026Article
- The potential role of dynein heavy chain genes in the pathophysiology of undescended testis.Pediatric surgery international · 2026Article
- CAPZA1 deficiency disrupts sperm flagellar structure and motility, potentially involving the p300/SLC7A11 pathway.Frontiers in endocrinology · 2026Article
- Prenatal Low Testosterone Levels Induced byBiomedicines · 2025Article
- Novel compound heterozygous mutation inMolecular medicine reports · 2025Article
- Novel bi-allelic variants in DNAH10 lead to multiple morphological abnormalities of sperm flagella and male infertility.Asian journal of andrology · 2025Article
- Function of manchette and intra-manchette transport in spermatogenesis and male fertility.Cell communication and signaling : CCS · 2025Review
- DNAH9 variants in children with post-infectious bronchiolitis/bronchitis obliterans.Orphanet journal of rare diseases · 2025Article
- Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia.Journal of human genetics · 2025Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- Whole exome sequencing analysis of 167 men with primary infertility.BMC medical genomics · 2024Article
- Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility.Human genomics · 2024Article
- Further evidence fromiScience · 2024Article
- DNA methylation patterns in patients with asthenospermia and oligoasthenospermia.BMC genomics · 2024Article
- Review
- The Role of Circular RNAs in Male Infertility and Reproductive Cancers: A Narrative Review.Iranian journal of medical sciences · 2023Review
- Cilia Ultrastructure Associated with Primary Ciliary Dyskinesia in Omani Patients.Sultan Qaboos University medical journal · 2023Article
- Molecular characteristics and transcriptional regulatory of spermatogenesis-related geneAnimal reproduction · 2023Article
- NovelFrontiers in endocrinology · 2023Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundAsthenozoospermia is one of the most common causes of male infertility, and its genetic etiology is poorly understood. DNAH9 is a core component of outer dynein arms in cilia and flagellum. It was reported that variants of DNAH9 (OMIM: 603330) might cause primary ciliary dyskinesia (PCD). However, variants in DNAH9 lead to nonsyndromic severe asthenozoospermia have yet to be reported.
methodsWhole exome sequencing (WES) was performed for two individuals with nonsyndromic severe asthenozoospermia from two non-consanguineous families, and Sanger sequencing was performed to verify the identified variants and parental origins. Sperm routine analysis, sperm vitality rate and sperm morphology analysis were performed according the WHO guidelines 2010 (5th edition). Transmission electron microscopy (TEM, TECNAI-10, 80 kV, Philips, Holland) was used to observe ultrastructures of sperm tail. Quantitative realtime-PCR and immunofluorescence staining were performed to detect the expression of DNAH9-mRNA and location of DNAH9-protein. Furthermore, assisted reproductive procedures were applied.
resultsBy WES and Sanger sequencing, compound heterozygous DNAH9 (NM_001372.4) variants were identified in the two individuals with nonsyndromic severe asthenozoospermia (F1 II-1: c.302dupT, p.Leu101fs*47 / c.6956A > G, p.Asp2319Gly; F2 II-1: c.6294 T > A, p.Phe2098Leu / c.10571 T > A, p.Leu3524Gln). Progressive rates less than 1% with normal sperm morphology rates and normal vitality rates were found in both of the two subjects. No respiratory phenotypes, situs inversus or other malformations were found by detailed medical history, physical examination and lung CT scans etc. Moreover, the expression of DNAH9-mRNA was significantly decreased in sperm from F1 II-1. And expression of DNAH9 is lower in sperm tail by immunofluorescence staining in F1 II-1 compared with normal control. Notably, by intracytoplasmic sperm injection (ICSI), F1 II-1 and his partner successfully achieved clinical pregnancy.
conclusionsWe identified DNAH9 as a novel pathogenic gene for nonsyndromic severe asthenospermia, and ICSI can contribute to favorable pregnancy outcomes for these patients.
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