ArticleHuman genetics2021
Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies.
Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Congenital and Breed-Associated Vertebral Anomalies in Dogs and Cats: Developmental Anatomy, Genetic Determinants, and Biological Significance.Life (Basel, Switzerland) · 2026Review
- Quantitative genetic analysis of respiratory function and related traits in Bulldogs, French Bulldogs and Pugs.PloS one · 2026Article
- Muscle volume of supraspinatus and infraspinatus in dogs: a computed tomography reliability study.Frontiers in veterinary science · 2026Article
- Health status and disease prevalences in French bulldogs in Germany: insights from a survey-based study.Companion animal health and genetics · 2025Article
- Determinants of de novo mutations in extended pedigrees of 43 dog breeds.Genome biology · 2025Article
- Beauty versus the beast: The UK public prefers less-extreme body shapes in brachycephalic dog breeds.The Veterinary record · 2025Article
- Incorporating Morphological Evaluations into Breeding Soundness Examinations for Female Dogs.Animals : an open access journal from MDPI · 2025Review
- Copy-cat evolution: Divergence and convergence within and between cat and dog breeds.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Meningoencephalitis of unknown origin in dogs under veterinary referral care in England (2017-2021): a multicenter case control study.Frontiers in veterinary science · 2025Article
- Breed-Specific Skull Morphology Reveals Insights into Canine Optic Chiasm Positioning and Orbital Structure through 3D CT Scan Analysis.Animals : an open access journal from MDPI · 2024Article
- BOAS in the Boston Terrier: A healthier screw-tailed breed?PloS one · 2024Article
- Non-canonical WNT5A-ROR signaling: New perspectives on an ancient developmental pathway.Current topics in developmental biology · 2023Article
- That brachycephalic look: Infant-like facial appearance in short-muzzled dog breeds.Animal welfare (South Mimms, England) · 2023Article
- Syringohydromyelia in Dogs: The Genomic Component Underlying a Complex Neurological Disease.Animals : an open access journal from MDPI · 2022Article
- French Bulldogs differ to other dogs in the UK in propensity for many common disorders: a VetCompass study.Canine medicine and genetics · 2021Article
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Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A frameshift deletion variant in the Wnt pathway gene dishevelled 2 (DVL2) is associated with a truncated, kinked tail ("screw tail") in English Bulldogs, French Bulldogs and Boston Terriers. These breeds are also characterized by distinctive morphological traits, including a wide head, flat face and short-limbed dwarfism, which are characteristic of Robinow syndrome in humans, caused by defects in genes such as DVL1 and DVL3. Based on these phenotypic and genetic similarities, it has previously been hypothesized that the canine DVL2 variant results in a syndromic phenotype called the Robinow-like syndrome. In our study, we investigated the distribution of the DVL2 variant in 1954 dogs from 15 breeds, identifying breeds with allele variation and enabling the dissection of the genotype-phenotype correlation for the first time. With CT examinations in American Staffordshire Terriers, we confirmed that the DVL2 allele is associated with caudal vertebral malformations and a brachycephalic phenotype. We also hypothesize that the variant may be linked to additional health conditions, including brachycephalic obstructive airway syndrome and congenital heart defects. Altogether, our study strengthens the role of DVL2 as one of the contributors to the "bulldog type" morphology and features on the spectrum of human Robinow syndrome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.