OMIA 001140-9615 : Cleft lip with or without cleft palate in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
119530
,
600625
,
608864
,
602966
,
600757
,
608371
,
608874
,
608864
,
613705
,
610361
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2015
Species-specific symbol:
CL/P
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.
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
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.
| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nova Scotia Duck Tolling retriever | Cleft lip with or without cleft palate | ADAMTS20 | deletion, small (<=20) | CanFam3.1 | c.1360_1361delAA | p.Lys453Ilefs*3 | 2015 | 25798845 |
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.
| 2019 | Roman, N., Carney, P.C., Fiani, N., Peralta, S. : | |
| Incidence patterns of orofacial clefts in purebred dogs. PLoS One 14:e0224574, 2019. Pubmed reference: 31682628. DOI: 10.1371/journal.pone.0224574. | ||
| 2017 | 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. | ||
| 2009 | Kemp, C., Thiele, H., Dankof, A., Schmidt, G., Lauster, C., Fernahl, G., Lauster, R. : | |
| Cleft lip and/or palate with monogenic autosomal recessive transmission in Pyrenees shepherd dogs. Cleft Palate Craniofac J 46:81-8, 2009. Pubmed reference: 19115787. DOI: 10.1597/06-229.1. | ||
| 1972 | Edmonds, L., Stewart, R.W., Selby, L. : | |
| Cleft lip and palate in dogs (Boxer breed): a preliminary report Carnivore Genetics Newsletter 9:204-209, 1972. | ||
| 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. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 22 Apr 2015