OMIA 002112-9615 : Osteogenesis imperfecta, COL1A2-related in Canis lupus familiaris
In an affected Chow Chow, Quist et al. (2017) identified a likely causal variant as "a G>A heterozygous mutation in the splice donor site of exon 18 of the COL1A2 gene (c.936+1G>A). The splice donor mutation was not detected among 91 control dogs representing 21 breeds. A comparative analysis of exon 18 and the exon-intron junction further showed that the mutated splice donor site is conserved among vertebrates."
Letko et al. (2019) reported a "de novo in‐frame duplication in the COL1A2 gene [g.19898279_19898281dup; c.877_879dupCCC] in a Lagotto Romagnolo dog with osteogenesis imperfecta". The de novo nature of the variant was concluded from the observation that "both parents, as well as all four littermates, were homozygous wild type . . . . An additional 87 unrelated Lagotto Romagnolo dogs were genotyped homozygous wild type, which confirmed the presence of variant allele only in the single affected dog."Breeds: Beagle, Chow Chow. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|COL1A2||collagen, type I, alpha 2||Canis lupus familiaris||14||NC_051818.1 (19699099..19734901)||COL1A2||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.
|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|
|Beagle||Osteogenesis imperfecta, COL1A2-related||COL1A2||delins, small (<=20)||"a mutation in which nucleotides 3991-3994 ("CTAG") were replaced with "TGTCATTGG." The first seven bases of the inserted sequence were identical to nucleotides 4002-4008 of the normal canine COL1A2 sequence. The resulting frameshift changed 30 amino acids and introduced a premature stop codon."||2001||11393792|
|Chow Chow||Osteogenesis imperfecta, COL1A2-related||COL1A2||splicing||CanFam2||14||g.22845733G>A||c.936+1G>A||2017||29036614|
|Lagotto Romagnolo||Osteogenesis imperfecta, COL1A2-related||COL1A2||duplication||CanFam3.1||14||g.19898279_19898281dup||c.877_879dupCCC||p.Pro293dup||NM_001003187.1:c.877_879dupCCC; NP_001003187.1:p.Pro293dup||2019||31468557|
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||Letko, A., Zdora, I., Hitzler, V., Jagannathan, V., Beineke, A., Möhrke, C., Drögemüller, C., Letko, A., Zdora, I., Hitzler, V., Jagannathan, V., Beineke, A., Möhrke, C., Drögemüller, C. :|
|A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta. Anim Genet :, 2019. Pubmed reference: 31468557. DOI: 10.1111/age.12843.|
|2017||Quist, E.M., Doan, R., Pool, R.R., Porter, B.F., Bannasch, D.L., Dindot, S.V. :|
|Identification of a candidate mutation in the COL1A2 gene of a Chow Chow with osteogenesis imperfecta. J Hered :, 2017. Pubmed reference: 29036614. DOI: 10.1093/jhered/esx074.|
|2001||Campbell, B.G., Wootton, J.A.M., Macleod, J.N., Minor, R.R. :|
|Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha 2(I) and severe osteogenesis imperfecta Journal of Bone & Mineral Research 16:1147-1153, 2001. Pubmed reference: 11393792. DOI: 10.1359/jbmr.2001.16.6.1147.|
- Created by Frank Nicholas on 13 Jul 2017
- Changed by Frank Nicholas on 13 Jul 2017
- Changed by Frank Nicholas on 25 Oct 2017
- Changed by Frank Nicholas on 23 Jan 2018
- Changed by Frank Nicholas on 18 Sep 2019