ArticleJournal of human genetics2020
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.
Article in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 57 citations in OpenAlex.
- WFS1 Deficiency Impairs PIAS4-Associated SUMOylation and Increases Ubiquitin-Mediated Spermatogenesis-Related Protein Degradation Leading to Testicular Male Infertility.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Elucidating the susceptibility genes between insomnia and migraine by integrating genetic data and transcriptomes.The journal of headache and pain · 2026Article
- Identification of a Novel BiallelicThe world journal of men's health · 2026Article
- A genome-wide association study reveals additive and recessive alleles affecting male fertility in pigs.Journal of animal science and biotechnology · 2025Article
- Establishing the causative link between CFAP221 variants and asthenoteratozoospermia in humans.Journal of assisted reproduction and genetics · 2025Article
- Pathogenic variants inThe European respiratory journal · 2024Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- Review
- A novel homozygous missense TTC12 variant identified in an infertile Pakistani man with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia.Molecular genetics and genomics : MGG · 2024Article
- Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.Frontiers of medicine · 2023Article
- CCDC146 is required for sperm flagellum biogenesis and male fertility in mice.Cellular and molecular life sciences : CMLS · 2023Article
- Kif9 is an active kinesin motor required for ciliary beating and proximodistal patterning of motile axonemes.Journal of cell science · 2023Article
- Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.JCI insight · 2023Article
- LOF variants identifying candidate genes of laterality defects patients with congenital heart disease.PLoS genetics · 2022Article
- Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility.Molecular genetics & genomic medicine · 2022Article
- Recessive Mutations inAmerican journal of respiratory cell and molecular biology · 2022Article
- DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient.Journal of human genetics · 2022Article
- The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition.Human molecular genetics · 2022Article
- Clinical phenotypes of primary ciliary dyskinesia.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
- Identification ofFrontiers in genetics · 2022Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by recurrent respiratory infections, nasosinusitis, tympanitis, and/or male infertility, all of which can severely impair the patient's quality of life. Multiple morphological abnormalities of the sperm flagella (MMAF) is one type of severe teratozoospermia and results from a variety of flagellar defects. In this study, we conducted whole-exome sequencing to identify and evaluate the genetic lesions in two patients with potential PCD and MMAF. Biallelic mutations in exon 10, c.983G>A; p.(Gly328Asp), and exon 29, c.3532G>A; p.(Asp1178Asn), of the CFAP74 (NM_001304360) gene were identified in patient 1 (P1), and biallelic mutations in exon 7, c.652C>T; p.(Arg218Trp), and exon 35, c. 4331G>C; p.(Ser1444Thr), of the same gene were identified in patient 2 (P2). Bioinformatic analysis suggested that these variants may be disease causing. Immunofluorescence confirmed that CFAP74 was absent in these patients' sperm samples. Intracytoplasmic sperm injection (ICSI) was carried out for P1, and his wife became pregnant after embryo transfer and gave birth to a healthy baby. To the best of our knowledge, this study is the first to identify the importance of CFAP74 in potential PCD and MMAF, contributing to the genetic diagnosis of these disorders and helping to predict pregnancy outcomes relevant in in vitro fertilization.
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