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Robinow-like Syndrome - English Bulldog, Boston Terrier and French Bulldog Type
| Acronym: | RLS |
| Gene: | DVL2 |
| Mutation: | g.32195044del |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Robinow-like syndrome is a genetic caudal vertebral malformation often found in dogs due to breed propagation. This physical anomaly mostly affects three dog breeds: Bulldogs, Boston Terrier and French Bulldog and it is associated with a shortened and kinked tail, also known as a screw tail. Dogs with Robinow-like syndrome are also often characterized by abnormalities of the vertebral bones of the back, widely spaced eyes and a wide head. The cause of screw tail syndrome is a frameshift deletion variant in the Wnt pathway gene dishevelled 2 (DVL2), an important transcription factor present during the embryonic spine formation.
The syndrome is inherited as an autosomal recessive trait, requiring both copies of the mutated genes in mating pairs for the disease to develop. Dogs with only one mutated gene copy will not develop the disease, but may potentially pass the mutation to their offspring. Early genetic testing can help identify the gene with the specific mutation and prevent the further breeding and the development of those morphological anomalies.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Mansour TA, Lucot K, Konopelski SE, Dickinson PJ, Sturges BK, Vernau KL, Choi S, Stern JA, Thomasy SM, Döring S, Verstraete FJM, Johnson EG, York D, Rebhun RB, Ho HH, Brown CT, Bannasch DL. (2018) Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds. PLoS Genet. 14(12):e1007850. doi: 10.1371/journal.pgen.1007850. PMID: 30521570; PMCID: PMC6303079.
Niskanen, J.E., Reunanen, V., Salonen, M. et al. (2021) Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies. Hum Genet 140, 1535–1545. https://doi.org/10.1007/s00439-021-02261-8