OMIA 001271-9913 : Dwarfism, ACAN-related in Bos taurus |
Calves with this characteristic embryonic-lethal phenotype were described in the Jersey breed by Mead et al. (1946).
Molecular basis: After homozygosity mapping in candidate regions, mutation screening in the aggrecan (ACAN) gene "revealed a 4-bp insertion in exon 11 (2266-2267insGGCA) (called BD1 for diagnostic testing) and a second, rarer transition in exon 1 (-198C>T) (called BD2) that cosegregate with the disorder" (Cavanagh et al., 2007).Cabrera et al. (2016) reported a still-born calf with "Grossly evident chondrodystrophic dwarfism with hydrocephalus, compatible with so-called bulldog calf malformation", the result of a mating between a miniature Scottish Highland bull and cow, each of which was shown to be heterozygous for the same BD1 mutation in ACAN reported by Cavanagh et al. (2007) as being causal of bulldog dwarfism in the Dexter breed.
Struck et al. (2018) reported a different likely causal variant (ACAN:c.5686insC; p.Val1898fsTer9), homozygosity for which results in a very similar type of dwarfism in the Miniature Zebu breed: the variant was "homozygous in the affected calf and heterozygous in its [Miniature Zebu] parents".
Clinical features: As summarised by Cavanagh et al. (2007): "Affected fetuses display extremely disproportionate dwarfism, a short vertebral column, marked micromelia, a large abdominal hernia, and a relatively large head with a retruded muzzle, cleft palate, and protruding tongue (Harper et al. 1998)" Breeds: Dexter, Jersey, Miniature Highland. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
ACAN | aggrecan | Bos taurus | 21 | NC_037348.1 (20377694..20447099) | ACAN | 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.
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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
429 | Dexter | Bulldog calf | ACAN | BD2 | regulatory | Naturally occurring variant | ARS-UCD1.2 | 21 | g.20377856C>T | c.-198C>T | rs3423095877 | 2007 | 17952705 | Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170) | |||
590 | Dexter Scottish Highland | Bulldog calf | ACAN | BD1 | insertion, small (<=20) | Naturally occurring variant | ARS-UCD1.2 | 21 | g.20422104_20422105insGGCA | c.2266_2267insGGCA | 2007 | 17952705 | Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170) | ||||
1060 | Miniature Zebu | Bulldog calf | ACAN | insertion, small (<=20) | Naturally occurring variant | ARS-UCD1.2 | 21 | g.20428539_20428540insC | c.5688_5689insC | p.(V1897fs*9) | cDNA position based on transcript NM_173981.2 | 2018 | 30305023 |
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.
2018 | Struck, A.K., Dierks, C., Braun, M., Hellige, M., Wagner, A., Oelmaier, B., Beineke, A., Metzger, J., Distl, O. : | |
A recessive lethal chondrodysplasia in a miniature zebu family results from an insertion affecting the chondroitin sulfat domain of aggrecan. BMC Genet 19:91, 2018. Pubmed reference: 30305023. DOI: 10.1186/s12863-018-0678-8. | ||
2017 | Dittmer, K.E., Thompson, K.G., Hogan, T. : | |
Severe generalised chondrodysplasia in miniature cattle breeds. N Z Vet J 65:282-283, 2017. Pubmed reference: 28504055. DOI: 10.1080/00480169.2017.1329036. | ||
2016 | Catalina Cabrera, L., McNabb, B.R., Woods, S.E., Cartoceti, A.N., Busch, R.C. : | |
Hydrops associated with chondrodysplasia of the fetus in a miniature Scottish Highland cow. J Am Vet Med Assoc 248:552-6, 2016. Pubmed reference: 26885599. DOI: 10.2460/javma.248.5.552. | ||
2007 | Cavanagh, JA., Tammen, I., Windsor, PA., Bateman, JF., Savarirayan, R., Nicholas, FW., Raadsma, HW. : | |
Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN. Mamm Genome 18:808-814, 2007. Pubmed reference: 17952705. DOI: 10.1007/s00335-007-9066-9. | ||
2006 | Windsor, PA., Cavanagh, JA., Tammen, I. : | |
Hydrops fetalis associated with pulmonary hypoplasia in Dexter calves. Aust Vet J 84:278-81, 2006. Pubmed reference: 16911227. DOI: 10.1111/j.1751-0813.2006.00018.x. | ||
2005 | Cavanagh, J.A., Tammen, I., Hayden, M.J., Gill, C.A., Nicholas, F.W., Raadsma, H.W. : | |
Characterization of the bovine aggrecan gene: genomic structure and physical and linkage mapping. Anim Genet 36:452-4, 2005. Pubmed reference: 16167996. DOI: 10.1111/j.1365-2052.2005.01340.x. | ||
2003 | Cavanagh, J.A.L., Thomson, P.C., Tammen, I., Nicholas, F.W., Raadsma, H.W. : | |
Discriminant analysis of Dexter cattle physical measurement data. Proceedings of the Association for the Advancement of Animal Breeding and Genetics 15:421-424, 2003. | ||
1999 | Tammen, I., Cavanagh, J.A.L., Cook, R.W., Harper, P.A.W., Raadsma, H.W., Nicholas, F.W. : | |
Combined homozygosity mapping and candidate gene approach for the identification of disease genes in cattle and sheep Archiv fur Tierzucht-Archives of Animal Breeding 42:163-166, 1999. | ||
1998 | Harper, P.A.W., Latter, M.R., Nicholas, F.W., Cook, R.W., Gill, P.A. : | |
Chondrodysplasia in Australian Dexter cattle Australian Veterinary Journal 76:199-202, 1998. Pubmed reference: 9578757. | ||
1997 | Usha, A.P., Lester, D.H., Williams, J.L. : | |
Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans Animal Genetics 28:55-57, 1997. Pubmed reference: 9124710. | ||
1996 | Reppas, G.P., Rheinberger, R., Canfield, P.J., Watson, G.F. : | |
An unusual congenital cardiac anomaly in a Dexter calf Australian Veterinary Journal 73:115-116, 1996. Pubmed reference: 8660214. | ||
1990 | Curran, P.L. : | |
Kerry and Dexter Cattle and other ancient Irish breeds Dublin: The Royal Dublin Society :, 1990. | ||
1987 | Kay, V. : | |
Further thoughts on the genetics of Dexter cattle Ark 14:301-304, 1987. | ||
1986 | Curran, P.L. : | |
The genetics of Dexter cattle The Ark 13:199-202, 1986. | ||
1978 | Alderson, G.L.H. : | |
A breeding policy for Dexter cattle Ark 5:268-271, 1978. | ||
1976 | Anon. : | |
Breed of the month - Dexter cattle Great Britain, dwarf and miniature characteristics Ark 3:102-103, 1976. | ||
1974 | Eldridge, F.E. : | |
A dicentric Robertsonian translocation in a Dexter cow Journal of Heredity 65:353-355, 1974. Pubmed reference: 4141364. | ||
1960 | Gregory, P.W., Tyler, W.S., Julian, L.M. : | |
Evidence that the Dexter mutant is genetically related to recessive achondroplasia Anatomical Record 138:353-354, 1960. | ||
1953 | Moyles, G. : | |
Dexter cattle: an historical sketch Journal of the Department of Agriculture, Ireland LVI:109-113, 1953. | ||
1946 | Mead, S.W., Gregory, P.W., Regan, W.M. : | |
A recurrent mutation of dominant achondroplasia in cattle. J Hered 37:183-8, 1946. Pubmed reference: 20995083. | ||
1936 | Punnett, R.C. : | |
The experiments of T.H. Riches concerning the production of monsters in cattle Journal of Genetics 32:65-72, 1936. | ||
1929 | Landauer, E. : | |
A possible means of selection for non-deformity breeding in Dexter cattle Veterinary Journal 85:11-15, 1929. | ||
Landauer, W., Thigpen, L.W. : | ||
Studies in chondrodystrophy. IV. Differental blood counts of chondrodystropic chicken embryos and of Dexter cattle Folia Haematoligica 38:1-13, 1929. | ||
1924 | Crew, F.A.E. : | |
The bull-dog calf: a contribution to the study of achondroplasia Royal Society of Medicine, Proceedings 17:39-54, 1924. | ||
1923 | Crew, F.A.E. : | |
The significance of an achondroplasia-like condition met with in cattle Proceedings of the Royal Society Series B 95:228-256, 1923. | ||
1909 | Wilson, J. : | |
The origin of the Dexter-Kerry breed of cattle Proceedings of the Royal Dublin Society 12:1-17, 1909. | ||
1904 | Seligmann, M.B. : | |
Cretinism in calves Journal of Pathology and Bacteriology 9:311-322, 1904. DOI: 10.1002/path.1700090306. | ||
1893 | Lowne, B.T., Masters, M.T. : | |
Descriptive Catalogue of the Teratological Series in the Museum of the Royal College of Surgeons of England, 2nd edn. London, Royal College of Surgeons. :, 1893. DOI: 10.5962/bhl.title.99387. |
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