OMIA 000272-9615 : Dermoid sinus in Canis lupus familiaris
Category: Integument (skin) phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2007
Species-specific name: ridge; hair ridge; dermoid cyst
Species-specific description: Dermoid sinuses and cysts have been described in dogs from several breeds.
Hillbertz and Andersson (2006) reported that in the Rhodesian ridgeback population, dogs with the autosomal dominant ridge are predisposed to dermoid sinuses.
Salmon Hillbertz et al. (2007) identified the causative mutation for the autosomal dominant dorsal hair ridge in Rhodesian and Thai Ridgeback dogs and proposed that "the mutation predisposes to dermoid sinus with low penetrance in duplication heterozygotes and with high penetrance in homozygotes."
Inheritance: "[T]he ridge trait is inherited in a dominant fashion; thus a single copy of this duplication results in appearance of a ridge, and dogs with two copies of the duplication are indistinguishable from dogs with one copy" (Waldo and Diaz, 2015)
Mapping: In a landmark study, Karlsson et al. (2007) mapped the hair-ridge locus to a 750kb region on chromosome CFA18 via one of the first Genome-Wide Association Studies (GWAS) using 27,000 SNPs on just "9 ridgeless Rhodesian ridgebacks and 12 ridged controls".
Molecular basis: The 750kb candidate region on CFA18 identified by Karlsson et al. (2007) (see Mapping section) contains five genes, three of which are fibroblast growth factor (FGF) genes that in chickens have an integral role in embryonic development. In an accompanying paper in the same issue of Nature Genetics, Salmon Hillbertz et al. (2007) reported that the hair-ridge phenotype (which predisposes to dermoid sinus) is due to a large duplication encompassing all three FGF genes (FGF3, FGF4, FGF19) and another gene ORAOV1.
Genetic testing: Waldo and Diaz (2015) reported a useful diagnostic test for the causal duplication detailed above. While homozygotes and heterozygotes for the duplication (Ridge allele) have identical ridge appearance (characteristic of ridged breeds), homozygotes for the Ridge allele are more likely to also have a dermoid sinus (Salmon Hillbertz et al., 2007).
Breeds: Chow Chow, Dachshund, Italian Cane Corso, Rhodesian Ridgeback, Siberian Husky, Thai Ridgeback, Yorkshire Terrier.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FGF4 retrogene on CFA12||fibroblast growth factor 4||Canis lupus familiaris||18||NC_051822.1 (49090454..49093840)||FGF4 retrogene on CFA12||Homologene, Ensembl, NCBI gene|
|FGF19||fibroblast growth factor 19||Canis lupus familiaris||18||NC_051822.1 (49142011..49147073)||FGF19||Homologene, Ensembl, NCBI gene|
|FGF3||fibroblast growth factor 3||Canis lupus familiaris||18||NC_051822.1 (49057796..49065400)||FGF3||Homologene, Ensembl, NCBI gene|
|ORAOV1||oral cancer overexpressed 1||Canis lupus familiaris||18||NC_051822.1 (49159378..49167844)||ORAOV1||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|929||Rhodesian Ridgeback Thai Ridgeback||Ridge & dermoid sinus||FGF3||Ridge allele||duplication||Naturally occurring variant||CanFam3.1||18||g.48372578_48505893dup133316||A large ~133,000 bp duplication on chromosome 18, encompassing three FGF genes (FGF3, FGF4, FGF19) and another gene ORAOV1. There is an additional single T inserted between the two copies of the duplication. This is not indicated in the genomic variant designation.||2007||17906623|
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.
|2022||Distl, O. :>|
|Prevalence and segregation analysis of dermoid sinus in Rhodesian Ridgebacks. Vet J 280:105803, 2022. Pubmed reference: 35150843. DOI: 10.1016/j.tvjl.2022.105803.|
|Zhang, X., Distl, O. :>|
|A study of Rhodesian Ridgeback dogs indicates that the duplication responsible for hair ridge is not identical with the hypothesized locus for dermoid sinus. Anim Genet 53:231-233, 2022. Pubmed reference: 35067986. DOI: 10.1111/age.13172.|
|2021||Blondel, M., Deprey, J., Moissonnier, P. :>|
|Type IV dermoid sinus, intramedullary dermoid cyst and spina bifida in a Cane Corso. J Small Anim Pract 62:810-815, 2021. Pubmed reference: 33025601. DOI: 10.1111/jsap.13240.|
|2015||Waldo, J.T., Diaz, K.S. :>|
|Development and validation of a diagnostic test for Ridge allele copy number in Rhodesian Ridgeback dogs. Canine Genet Epidemiol 2:2, 2015. Pubmed reference: 26401330. DOI: 10.1186/s40575-015-0013-x.|
|2014||Barrios, N., Gómez, M., Mieres, M., Vera, F., Alvial, G. :>|
|Spinal dermoid sinus in a Dachshund with vertebral and thoracic limb malformations. BMC Vet Res 10:54, 2014. Pubmed reference: 24593884. DOI: 10.1186/1746-6148-10-54.|
|2009||Andersson, L. :>|
|Genome-wide association analysis in domestic animals: a powerful approach for genetic dissection of trait loci. Genetica 136:341-9, 2009. Pubmed reference: 18704695. DOI: 10.1007/s10709-008-9312-4.|
|2008||Rahal, S., Mortari, AC., Yamashita, S., Filho, MM., Hatschbac, E., Sequeira, JL. :>|
|Magnetic resonance imaging in the diagnosis of type 1 dermoid sinus in two Rhodesian Ridgeback dogs. Can Vet J 49:871-6, 2008. Pubmed reference: 10713979.|
|2007||Karlsson, E.K., Baranowska, I., Wade, C.M., Salmon Hillbertz, N.H., Zody, M.C., Anderson, N., Biagi, T.M., Patterson, N., Pielberg, G.R., Kulbokas, E.J., Comstock, K.E., Keller, E.T., Mesirov, J.P., von Euler, H., Kämpe, O., Hedhammar, A., Lander, E.S., Andersson, G., Andersson, L., Lindblad-Toh, K. :>|
|Efficient mapping of mendelian traits in dogs through genome-wide association. Nat Genet 39:1321-8, 2007. Pubmed reference: 17906626. DOI: 10.1038/ng.2007.10.|
|Salmon Hillbertz, N.H., Isaksson, M., Karlsson, E.K., Hellmén, E., Pielberg, G.R., Savolainen, P., Wade, C.M., von Euler, H., Gustafson, U., Hedhammar, A., Nilsson, M., Lindblad-Toh, K., Andersson, L., Andersson, G. :>|
|Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs. Nat Genet 39:1318-20, 2007. Pubmed reference: 17906623. DOI: 10.1038/ng.2007.4.|
|2006||Hillbertz, NH., Andersson, G. :>|
|Autosomal dominant mutation causing the dorsal ridge predisposes for dermoid sinus in Rhodesian ridgeback dogs. J Small Anim Pract 47:184-8, 2006. Pubmed reference: 16573760. DOI: 10.1111/j.1748-5827.2006.00016.x.|
|2005||Hillbertz, NH. :>|
|Inheritance of dermoid sinus in the Rhodesian ridgeback. J Small Anim Pract 46:71-4, 2005. Pubmed reference: 15736812.|
|2000||Tshamala, M., Moens, Y. :>|
|True dermoid cyst in a Rhodesian ridgeback Journal of Small Animal Practice 41:352-353, 2000. Pubmed reference: 11002937.|
|1999||Cornegliani, L., Ghibaudo, G. :>|
|A dermoid sinus in a Siberian Husky Veterinary Dermatology 10:47-49, 1999.|
|1998||Booth, M.J. :>|
|Atypical dermoid sinus in a chow chow dog Journal of the South African Veterinary Medical Association 69:102-104, 1998.|
|1995||Fatone, G., Brunetti, A., Lamagna, F., Potena, A. :>|
|Dermoid sinus and spinal malformations in a Yorkshire terrier: Diagnosis and follow-up Journal of Small Animal Practice 36:178-180, 1995. Pubmed reference: 7603060.|
|1993||Marks, S.L., Harari, J., Dernell, W.S. :>|
|Dermoid Sinus in a Rhodesian Ridgeback Journal of Small Animal Practice 34:356-358, 1993.|
|1992||Kása, F., Kása, G., Kussinger, S. :>|
|[Dermoid sinus in a Rhodesian ridgeback. Case report]. Tierarztl Prax 20:628-31, 1992. Pubmed reference: 1481220.|
|1989||Williams, ML. :>|
|The ridgeback anomaly. Arch Dermatol 125:1144, 1989. Pubmed reference: 2642687.|
|1986||Gammie, JS. :>|
|Dermoid sinus removal in a Rhodesian ridgeback dog. Can Vet J 27:250-1, 1986. Pubmed reference: 17422670.|
|1979||Hathcock, JT., Clampett, EG., Broadstone, RV. :>|
|Dermoid sinus in a Rhodesian Ridgeback. Vet Med Small Anim Clin 74:53-6, 1979. Pubmed reference: 256350.|
|1970||Antin, IP. :>|
|Dermoid sinus in a Rhodesian Ridgeback dog. J Am Vet Med Assoc 157:961-2, 1970. Pubmed reference: 4919487.|
|1966||Mann, G.E., Stratton, J. :>|
|Dermoid sinus in the Rhodesian Ridgeback Journal of Small Animal Practice 7:631-642, 1966. Pubmed reference: 5951011. DOI: 10.1111/j.1748-5827.1966.tb04388.x.|
|1957||Lord, L.H., Cawley, A.J., Gilray, J. :>|
|Mid dorsal dermoid sinuses in Rhodesian Ridgeback dogs - a case report Journal of the American Veterinary Medical Association 131:515-518, 1957.|
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