OMIA:001140-9615 : Cleft lip with or without cleft palate, ADAMTS20-related in Canis lupus familiaris (dog) |
Categories: Craniofacial phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611681 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2015
Cross-species summary: Phene name was changed from 'Cleft lip with or without cleft palate' [4/5/2023]
Species-specific name: orofacial cleft; palatoschisis
Species-specific symbol: CL/P
Species-specific description: See 'OMIA:001919-9615 : Cleft palate 1, DLX6-related' for a different form of clef palate in Nova Scotia Duck Tolling retrievers.
Mapping: From a GWAS on 7 affecteds and 112 control Nova Scotia Duck Tolling retrievers, each genotyped with the Illumina CanineHD BeadChip (yielding 110,021 informative SNPs), Wolf et al. (2015) mapped this disorder to a 2.88Mb region on chromosome CFA27. Subsequent homozygosity mapping narrowed this to a 1.44Mb region, namely CFA27: 9.29–10.73 Mb
Molecular basis: Frameshift deletion: c.1360_1361delAA; p.Lys453Ilefs*3 (CanFam 3.1 boxer reference genome) "resulting in premature truncation of 1461 amino acids from the 1916 amino acid protein" (Wolf et al., 2015)
Breed:
Nova Scotia Duck Tolling Retriever (Dog) (VBO_0200964).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ADAMTS20 | ADAM metallopeptidase with thrombospondin type 1 motif, 20 | Canis lupus familiaris | 27 | NC_051831.1 (10688121..10851084) | ADAMTS20 | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 537 | Nova Scotia Duck Tolling Retriever (Dog) | Cleft lip with or without cleft palate | ADAMTS20 | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 27 | g.10553479_10553480del | c.1358_1359del | p.(K453Ifs*4) | XM_022410988.1; XP_022266696.1; published as c.1360_1361delAA and p.(K453Ifs*3); coordinates in the table have been updated to a recent reference genome and / or transcript and HGVS nomenclature | 2015 | 25798845 | Genomic position in CanFam3.1 provided by Mateo Etcheveste and Robert Kuhn. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001140-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2022 | Goldschmidt, S., Hoyer, N. : |
| Management of dental and oral developmental conditions in dogs and cats. Vet Clin North Am Small Anim Pract 52:139-158, 2022. Pubmed reference: 34838248. DOI: 10.1016/j.cvsm.2021.09.002. | |
| 2017 | Moura, E., Pimpão, C.T. : |
| A numerical classification system for cleft lip and palate in the dog. J Small Anim Pract 58:610-614, 2017. Pubmed reference: 28887848. DOI: 10.1111/jsap.12730. | |
| Peralta, S., Fiani, N., Kan-Rohrer, K.H., Verstraete, F.J.M. : | |
| Morphological evaluation of clefts of the lip, palate, or both in dogs. Am J Vet Res 78:926-933, 2017. Pubmed reference: 28738009. DOI: 10.2460/ajvr.78.8.926. | |
| 2015 | Wolf, Z.T., Brand, H.A., Shaffer, J.R., Leslie, E.J., Arzi, B., Willet, C.E., Cox, T.C., McHenry, T., Narayan, N., Feingold, E., Wang, X., Sliskovic, S., Karmi, N., Safra, N., Sanchez, C., Deleyiannis, F.W., Murray, J.C., Wade, C.M., Marazita, M.L., Bannasch, D.L. : |
| Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genet 11:e1005059, 2015. Pubmed reference: 25798845. DOI: 10.1371/journal.pgen.1005059. | |
| 1961 | Calnan, J. : |
| The comparative anatomy of cleft lip and palate. I. Classification of cleft lip and palate in dogs. Br J Plast Surg 14:180-4, 1961. Pubmed reference: 13875838. DOI: 10.1016/s0007-1226(61)80033-7. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 22 Apr 2015
- Changed by Imke Tammen2 on 31 Oct 2022
- Changed by Imke Tammen2 on 04 May 2023