ArticleEuropean journal of human genetics : EJHG2022
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.
Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy.Clinical genetics · 2026Article
- Identification of novel interacting proteins of FUZ and GPR161.bioRxiv : the preprint server for biology · 2025Article
- Linkage between Fuz and Gpr161 genes regulates sonic hedgehog signaling during mouse neural tube development.Development (Cambridge, England) · 2024Article
- Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.European journal of human genetics : EJHG · 2024Article
- Neural crest development and disorders: from patient to model system and back again - the NEUcrest conference.Biology open · 2024Article
- The CPLANE protein Fuzzy regulates ciliogenesis by suppressing actin polymerization at the base of the primary cilium via p190A RhoGAP.Development (Cambridge, England) · 2024Article
- The Fuzzy planar cell polarity protein (FUZ), necessary for primary cilium formation, is essential for pituitary development.Journal of anatomy · 2024Article
- The novel linkage betweenbioRxiv : the preprint server for biology · 2024Article
- Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis ofInternational journal of molecular sciences · 2022Article
- Roles of the actin cytoskeleton in ciliogenesis.Journal of cell science · 2022Review
- Loss of Planar Cell Polarity Effector Fuzzy Causes Renal Hypoplasia by Disrupting Several Signaling Pathways.Journal of developmental biology · 2021Article
- The primary cilia: Orchestrating cranial neural crest cell development.Differentiation; research in biological diversityReview
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Authors and funding
9 authors at 4 institutions in 4 countries.
Funding
Abstract
Craniosynostosis is a birth defect occurring in approximately one in 2000 live births, where premature fusion of the cranial bones inhibits growth of the skull during critical periods of brain development. The resulting changes in skull shape can lead to compression of the brain, causing severe complications. While we have some understanding of the molecular pathology of craniosynostosis, a large proportion of cases are of unknown genetic aetiology. Based on studies in mouse, we previously proposed that the ciliopathy gene Fuz should be considered a candidate craniosynostosis gene. Here, we report a novel variant of FUZ (c.851 G > C, p.(Arg284Pro)) found in monozygotic twins presenting with craniosynostosis. To investigate whether Fuz has a direct role in regulating osteogenic fate and mineralisation, we cultured primary osteoblasts and mouse embryonic fibroblasts (MEFs) from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation. This suggests that FUZ protein normally acts as a negative regulator of osteogenesis. We then used Fuz mutant MEFs, which lose functional primary cilia, to test whether the FUZ p.(Arg284Pro) variant could restore FUZ function during ciliogenesis. We found that expression of the FUZ p.(Arg284Pro) variant was sufficient to partially restore cilia numbers, but did not mediate a comparable response to Hedgehog pathway activation. Together, this suggests the osteogenic effects of FUZ p.(Arg284Pro) do not depend upon initiation of ciliogenesis.
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