Article

Pathogenic <i>DVL</i> frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics

2025-08-03

Abstract excerpt

Robinow syndrome (RS) is a genetically heterogeneous rare disorder involving six genes in the WNT/planar cell polarity (PCP) signaling pathway. Frameshifting variants in DVL genes that introduce a novel basic C-terminus are a common cause of autosomal dominant RS, accounting for ∼33% of individuals without ROR2 variants. Here, we review ClinVar and literature variants affecting DVL paralogs resulting in RS and...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 762124b5-5b63-5cb3-87d9-0f9096363f75
DOI: 10.1101/2025.08.02.668297

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pathogenic <i>DVL</i> frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamicsDOI 10.1101/2025.08.02.668297Read

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

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

Robinow Syndrome <i>DVL1</i> variants disrupt morphogenesis and appendage formation in a Drosophila disease modelSemantic proximity Read

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.Semantic proximity Read

<i>DVL1</i> variants and C-terminal deletions have differential effects on craniofacial development and WNT signalingSemantic proximity Read

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

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

Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome.Semantic proximity Read

Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.Semantic proximity Read

Molecular and cellular mechanisms underlying neural tube defects in the loop-tail mutant mouse.Semantic proximity Read

Clinical and molecular characterization of four patients with Robinow syndrome from different families.Semantic proximity Read

RTK mutations and human syndromeswhen good receptors turn bad.Semantic proximity Read