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_006609.3 (10492587..10655681) | ADAMTS20 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| 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) | CanFam 3.1 | 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.
| 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