ArticlePloS one2015
A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM).
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 28 citations in OpenAlex.
- Integrative MRI and Genomics Analyses PrioritizeAnimals : an open access journal from MDPI · 2026Article
- A CACNA2D2-Related Recessive Form of Cerebellar Abiotrophy in Angus Cattle.Animal genetics · 2026Article
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- An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.Animals : an open access journal from MDPI · 2023Review
- A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration.Human genetics · 2023Article
- Interactions Between Purkinje Cells and Granule Cells Coordinate the Development of Functional Cerebellar Circuits.Neuroscience · 2021Review
- A Deletion inGenes · 2020Article
- A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.Animal genetics · 2019Article
- Genome-wide association studies and genetic testing: understanding the science, success, and future of a rapidly developing field.Journal of the American Veterinary Medical Association · 2019Review
- Complex StructuralG3 (Bethesda, Md.) · 2019Article
- A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (G3 (Bethesda, Md.) · 2017Article
- Caudal Fossa Ratio in Normal Dogs and Eurasier Dogs with VLDLR-Associated Genetic Cerebellar Hypoplasia.Frontiers in veterinary science · 2017Article
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- Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis.G3 (Bethesda, Md.) · 2016Article
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- Polioencephalopathy in Eurasier dogs.Journal of veterinary internal medicineArticle
- Dandy Walker-like malformation in an adult cat with seizures: clinical description and MRI characteristics.JFMS open reportsArticle
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dandy-Walker-like malformation (DWLM) is the result of aberrant brain development and mainly characterized by cerebellar hypoplasia. DWLM affected dogs display a non-progressive cerebellar ataxia. Several DWLM cases were recently observed in the Eurasier dog breed, which strongly suggested a monogenic autosomal recessive inheritance in this breed. We performed a genome-wide association study (GWAS) with 9 cases and 11 controls and found the best association of DWLM with markers on chromosome 1. Subsequent homozygosity mapping confirmed that all 9 cases were homozygous for a shared haplotype in this region, which delineated a critical interval of 3.35 Mb. We sequenced the genome of an affected Eurasier and compared it with the Boxer reference genome and 47 control genomes of dogs from other breeds. This analysis revealed 4 private non-synonymous variants in the critical interval of the affected Eurasier. We genotyped these variants in additional dogs and found perfect association for only one of these variants, a single base deletion in the VLDLR gene encoding the very low density lipoprotein receptor. This variant, VLDLR:c.1713delC is predicted to cause a frameshift and premature stop codon (p.W572Gfs*10). Variants in the VLDLR gene have been shown to cause congenital cerebellar ataxia and mental retardation in human patients and Vldlr knockout mice also display an ataxia phenotype. Our combined genetic data together with the functional knowledge on the VLDLR gene from other species thus strongly suggest that VLDLR:c.1713delC is indeed causing DWLM in Eurasier dogs.
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