ArticleHuman mutation2020
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Article in Human mutation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- CEP78 regulates the proliferation and angiogenesis of endothelial cells by mediating microtubule stabilization via p150glued.Journal of molecular histology · 2025Article
- Cep78 knockout causes sterility and oligoasthenoteratozoospermia in male mice.Scientific reports · 2025Article
- Article
- Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual.eLife · 2023Article
- Loss-of-function mutations inScience advances · 2022Article
- 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
- The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Human genetics · 2022Review
- Article
- Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.Orphanet journal of rare diseases · 2021Article
- Long-Read Sequencing to Unravel Complex Structural Variants ofFrontiers in cell and developmental biology · 2021Article
- Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.Human mutation · 2020Article
- Sperm centriole assessment identifies male factor infertility in couples with unexplained infertility - a pilot study.European journal of cell biologyArticle
- Review of Genotype-Phenotype Correlations in Usher Syndrome.Ear and hearingReview
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Authors and funding
31 authors at 12 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct from Usher syndrome. Here, we identified and functionally characterized the first CEP78 missense variant c.449T>C, p.(Leu150Ser) in three CRDHL families. The variant was found in a biallelic state in two Belgian families and in a compound heterozygous state-in trans with c.1462-1G>T-in a third German family. Haplotype reconstruction showed a founder effect. Homology modeling revealed a detrimental effect of p.(Leu150Ser) on protein stability, which was corroborated in patients' fibroblasts. Elongated primary cilia without clear ultrastructural abnormalities in sperm or nasal brushes suggest impaired cilia assembly. Two affected males from different families displayed sperm abnormalities causing infertility. One of these is a heterozygous carrier of a complex allele in SPAG17, a ciliary gene previously associated with autosomal recessive male infertility. Taken together, our data indicate that a missense founder allele in CEP78 underlies the same sensorineural CRDHL phenotype previously associated with inactivating variants. Interestingly, the CEP78 phenotype has been possibly expanded with male infertility. Finally, CEP78 loss-of-function variants may have an underestimated role in misdiagnosed Usher syndrome, with or without sperm abnormalities.
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