Disease Detail Information

OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: -

Considered a defect: yes

Year key mutation first reported: 2018

Species-specific name: Robinow-like syndrome

Species-specific symbol: -

More detail information can see in

Associated Breeds

There are associated breeds.

Associated Gene

Symbol	Description	Species	Position	Other Links
DVL2	dishevelled segment polarity protein 2	Canis lupus familiaris	Chr5 : 32307523 - 32299943	Homologene, Ensembl, NCBI gene

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2021	Niskanen,J.E.,Reunanen,V.,Salonen,M.,Bannasch,D.,Lappalainen,A.K.,Lohi,H.,Hytönen,M.K.: : Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies. Hum Genet :, 2021. Pubmed reference: 33599851 . DOI: 10.1007/s00439-021-02261-8 .
2018	Mansour,T.A.,Lucot,K.,Konopelski,S.E.,Dickinson,P.J.,Sturges,B.K.,Vernau,K.L.,Choi,S.,Stern,J.A.,Thomasy,S.M.,Döring,S.,Verstraete,F.J.M.,Johnson,E.G.,York,D.,Rebhun,R.B.,Ho,H.H.,Brown,C.T.,Bannasch,D.L.: : 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:e1007850, 2018. Pubmed reference: 30521570 . DOI: 10.1371/journal.pgen.1007850 .
2014	Guevar,J.,Penderis,J.,Faller,K.,Yeamans,C.,Stalin,C.,Gutierrez-Quintana,R.: : Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation. PLoS One 9:e106957, 2014. Pubmed reference: 25198374 . DOI: 10.1371/journal.pone.0106957 .
2014	Gutierrez-Quintana,R.,Guevar,J.,Stalin,C.,Faller,K.,Yeamans,C.,Penderis,J.: : A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds. Vet Radiol Ultrasound 55:585-91, 2014. Pubmed reference: 24833506 . DOI: 10.1111/vru.12172 .