ArticleHuman molecular genetics2016
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 45 citations in OpenAlex.
- frizzled 5 mutant zebrafish are genetically sensitised to developing microphthalmia and coloboma.Disease models & mechanisms · 2025Article
- Case report: A novel intronicFrontiers in genetics · 2025Article
- Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.Human genetics · 2024Article
- Expanding the phenotypic spectrum and clinical severity associated with WLS gene.Journal of human genetics · 2023Article
- Single-Cell Characterization of the Frizzled 5 (Fz5) Mutant Mouse and Human Persistent Fetal Vasculature (PFV).Investigative ophthalmology & visual science · 2023Article
- miR-29a is a negative regulator of influenza virus infection through targeting of the frizzled 5 receptor.Archives of virology · 2021Article
- Observational
- Confirming and expanding the phenotypes ofMolecular vision · 2021Article
- Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.Human molecular genetics · 2020Article
- YTHDF1 Facilitates the Progression of Hepatocellular Carcinoma by Promoting FZD5 mRNA Translation in an m6A-Dependent Manner.Molecular therapy. Nucleic acids · 2020Article
- The transcription factorDisease models & mechanisms · 2020Article
- Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.Experimental eye research · 2020Review
- Article
- Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Article
- An update on the genetics of ocular coloboma.Human genetics · 2019Review
- Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.PLoS genetics · 2018Article
- Dynamic Tissue Rearrangements during Vertebrate Eye Morphogenesis: Insights from Fish Models.Journal of developmental biology · 2018Review
- Molecular genetics and targeted therapy of WNT-related human diseases (Review).International journal of molecular medicine · 2017Article
- The Transcription Factor Foxg1 Promotes Optic Fissure Closure in the Mouse by Suppressing Wnt8b in the Nasal Optic Stalk.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.Human mutation · 2017Article
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Authors and funding
18 authors at 8 institutions in 5 countries.
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Abstract
Ocular coloboma is a common eye malformation resulting from incomplete fusion of the optic fissure during development. Coloboma is often associated with microphthalmia and/or contralateral anophthalmia. Coloboma shows extensive locus heterogeneity associated with causative mutations identified in genes encoding developmental transcription factors or components of signaling pathways. We report an ultra-rare, heterozygous frameshift mutation in FZD5 (p.Ala219Glufs*49) that was identified independently in two branches of a large family with autosomal dominant non-syndromic coloboma. FZD5 has a single-coding exon and consequently a transcript with this frameshift variant is not a canonical substrate for nonsense-mediated decay. FZD5 encodes a transmembrane receptor with a conserved extracellular cysteine rich domain for ligand binding. The frameshift mutation results in the production of a truncated protein, which retains the Wingless-type MMTV integration site family member-ligand-binding domain, but lacks the transmembrane domain. The truncated protein was secreted from cells, and behaved as a dominant-negative FZD5 receptor, antagonizing both canonical and non-canonical WNT signaling. Expression of the resultant mutant protein caused coloboma and microphthalmia in zebrafish, and disruption of the apical junction of the retinal neural epithelium in mouse, mimicking the phenotype of Fz5/Fz8 compound conditional knockout mutants. Our studies have revealed a conserved role of Wnt-Frizzled (FZD) signaling in ocular development and directly implicate WNT-FZD signaling both in normal closure of the human optic fissure and pathogenesis of coloboma.
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