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Article

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

Human molecular genetics - 6 Jun 2026

Tophkhane Shruti S, Akarsu Gamze, Gignac Sarah J, Xie Xinyi, Fu Katherine, Verheyen Esther M, Richman Joy M

Abstract excerpt

Robinow Syndrome is a genetically heterogeneous, rare skeletal disorder characterized by craniofacial and limb defects. All 7 causative genes lie in the Wingless-related Integration site-1 (WNT) pathway. Here we study the pathogenesis of DVL1 (Dishevelled 1), the most commonly affected gene, where variants cause a frameshift that replaces the C terminus with a novel peptide. We compared phenotypes caused by...

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Source

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Identifiers

PMID: 42424595
DOI: 10.1093/hmg/ddag053
PMCID: PMC13349050

Genes

DVL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.PMID 42424595Read ↗

The abnormal C-terminus in DVL1 impacts Robinow Syndrome phenotypesSemantic proximity Read ↗

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Pathogenic <i>DVL</i> frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamicsSemantic proximity Read ↗

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease modelSemantic proximity Read ↗

Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome.Semantic proximity Read ↗

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.Semantic proximity Read ↗

Craniofacial studies in chicken embryos confirm the pathogenicity of Frizzled2 variants associated with Robinow syndromeSemantic proximity Read ↗

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.Semantic proximity Read ↗

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