ReviewJournal of assisted reproduction and genetics2023
A novel variant in CFAP69 causes asthenoteratozoospermia with treatable ART outcomes and a literature review.
Review 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 5 papers.
What it found
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- A conserved minimal core and modular extensions make the fungal flagellum.Scientific reports · 2026Article
- HomozygousTranslational andrology and urology · 2026Article
- The Role of Whole Exome Sequencing in the Genetic Evaluation of the Infertile Man.Advances in experimental medicine and biology · 2026Review
- Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans.Human genetics · 2025Article
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMultiple morphological abnormalities of the sperm flagella (MMAF) are a severe form of sperm defect causing male infertility. Previous studies identified the variants in the CFAP69 gene as a MMAF-associated factor, but few cases have been reported. This study was performed to identify additional variants in CFAP69 and describe the semen characteristics and outcomes of assisted reproductive technology (ART) in CFAP69-affected couples.
methodsGenetic testing with next-generation sequencing (NGS) panel of 22 MMAF-associated genes and Sanger sequencing was performed in a cohort of 35 infertile males with MMAF to identify pathogenic variants. Morphological, ultrastructural, and immunostaining analyses were performed to investigate the characteristics of probands' spermatozoa. ART with intracytoplasmic sperm injection (ICSI) was carried out for the affected couples to get their own progenies.
resultsWe identified a novel frameshift variant in CFAP69 (c.2061dup, p. Pro688Thrfs*5) from a MMAF-affected infertile male with low sperm motility and malformed morphology of sperm. Furthermore, transmission electron microscopy and immunofluorescence staining revealed that the variant induced the aberrant ultrastructure and reduction of CFAP69 expression in the proband's spermatozoa. Moreover, the partner of the proband birthed a healthy girl through ICSI.
conclusionsThis study expanded the variant spectrum of CFAP69 and described the good outcome of ART treatment with ICSI, which is beneficial to the molecular diagnosis, genetic counseling, and treatment of infertile males with MMAF in the future.
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