OMIA:002283-9823 : Arthrogryposis multiplex congenita, KIF21A-related in Sus scrofa (pig) |
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 135700 (trait) , 608283 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2020
Inheritance: Lomo (1985) provided convincing evidence of a single-locus autosomal recessive form of this disorder.
Mapping: Genini et al. (2004) mapped porcine AMC to SSC5 q12-q23, at 92cM on a linkage map. Haubitz et al. (2012) refined the location to a 2.32 Mb region of SSC5.
Molecular basis: Fang et al. (2020) "detected a 63‐bp insertion compatible with the recessive inheritance of AMC in the second exon of KIF21A gene encoding Kinesin Family Member 21A. The 63‐bp insertion is predicted to introduce a premature stop codon in KIF21A gene (p.Val41_Phe42insTer) that truncates 1614 amino acids (~97%) from the protein."
Prevalence: Fang et al. (2020) reported that the insertion variant "still segregates at a frequency of 0.1% in the SLW [Swiss Large White] pig population"
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KIF21A | kinesin family member 21A | Sus scrofa | 5 | NC_010447.5 (71029832..70888999) | KIF21A | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1231 | Large White (Pig) | Arthrogryposis multiplex congenita, KIF21A-related | KIF21A | insertion, gross (>20) | Naturally occurring variant | Sscrofa11.1 | 5 | g.70964237_70964238insAAGATAGAGGTTCTTTCCTCTAGACTTGAGGTTCTCCTGGTGTGACAGATGGTTCTTTCCTCT | p.(V41_F42ins*) | (NC_010447.5:g70964237_ g70964238insAAGATAGAGGTTCTTTCCTCTAGACTTGAGGTTCTCCTGGTGTGACAGATGGTTCTTTCCTCT; p.Val41_Phe42insTer) (Fang et al., 2020) | rs5334475173 | 2020 | 32686171 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002283-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2020 | Fang, Z.H., Nosková, A., Crysnanto, D., Neuenschwander, S., Vögeli, P., Pausch, H. : |
| A 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita. Anim Genet 51:820-823, 2020. Pubmed reference: 32686171. DOI: 10.1111/age.12984. | |
| 2014 | Vögeli, P., Bertschinger, H.U., Bürgi, E., Neuenschwander, S. : |
| [Inheritance and disease in the pig: possibilities of use for breeding]. Schweiz Arch Tierheilkd 156:269-77, 2014. Pubmed reference: 24867239. DOI: 10.1024/0036-7281/a000589. | |
| 2012 | Haubitz, M., Neuenschwander, S., Vögeli, P. : |
| Porcine arthrogryposis multiplex congenita (AMC): New diagnostic test and narrowed candidate region. Mol Cell Probes 26:248-52, 2012. Pubmed reference: 22405934. DOI: 10.1016/j.mcp.2012.02.005. | |
| 2006 | Genini, S., Nguyen, T.T., Malek, M., Talbot, R., Gebert, S., Rohrer, G., Nonneman, D., Stranzinger, G., Vögeli, P. : |
| Radiation hybrid mapping of 18 positional and physiological candidate genes for arthrogryposis multiplex congenita on porcine chromosome 5. Anim Genet 37:239-44, 2006. Pubmed reference: 16734683. DOI: 10.1111/j.1365-2052.2006.01447.x. | |
| 2004 | Genini, S., Malek, M., Spilar, S., Nguyen, T.T., Ménétrey, F., Gebert, S., Hagger, C., Neuenschwander, S., Kadarmideen, H.N., Stranzinger, G., Vögeli, P. : |
| Arthrogryposis multiplex congenita (AMC), a hereditary disease in swine, maps to chromosome 5 by linkage analysis. Mamm Genome 15:935-41, 2004. Pubmed reference: 15672597. DOI: 10.1007/s00335-004-2403-3. | |
| 1985 | Lomo, O.M. : |
| Arthrogryposis and associated defects in pigs: indication of simple recessive inheritance Acta Vet Scand 26:419-22, 1985. Pubmed reference: 4096326. DOI: 10.1186/BF03546542. |
Edit History
- Created by Frank Nicholas on 24 Jul 2020
- Changed by Frank Nicholas on 24 Jul 2020