OMIA 002283-9823 : Arthrogryposis multiplex congenita, KIF21A-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 135700

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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

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
Swiss Large White Arthrogryposis multiplex congenita, KIF21A-related KIF21A insertion, gross (>20) Sscrofa11.1 5 g70964237_ g70964238insAAGATAGAGGTTCTTTCCTCTAGACTTGAGGTTCTCCTGGTGTGACAGATGGTTCTTTCCTCT p.(Val41_Phe42insTer) (NC_010447.5:g70964237_ g70964238insAAGATAGAGGTTCTTTCCTCTAGACTTGAGGTTCTCCTGGTGTGACAGATGGTTCTTTCCTCT; p.Val41_Phe42insTer) (Fang et al., 2020) 2020 32686171

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 :, 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.
1985 Lomo, O.M. :
Arthrogryposis and associated defects in pigs: indication of simple recessive inheritance Acta Veterinaria Scandinavica 26:419-422, 1985. Pubmed reference: 4096326.

Edit History


  • Created by Frank Nicholas on 24 Jul 2020
  • Changed by Frank Nicholas on 24 Jul 2020