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OMIA 002112-9615 : Osteogenesis imperfecta, COL1A2-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 166210 , 259420 , 166220 , 166710

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2001

Molecular basis: Campbell et al. (2001) reported a likely causal variant in an affected Beagle as: "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."

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."

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_006596.3 (19883731..19919527) COL1A2 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
Beagle Osteogenesis imperfecta, COL1A2-related COL1A2 indel, 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 COL2A1 splicing CanFam2 14 g.22845733G>A c.936+1G>A 2017 29036614
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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 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.

Edit History


  • 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