Complex vertebral malformation

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The Complex vertebral malformation (CVM) is a congenital syndrome in Holstein cattle , which to malformations of calves leads and lethal usually provokes miscarriage or death shortly after birth. It can also occur in the Holstein-Friesian and Wagyū cattle breeds .

distribution

Inheritance is autosomal - recessive .

The spread of the genetic defect can be traced back to a descendant of the breeding bull Osborndale Ivanhoe , Penstate Ivanhoe Star .

root cause

The disease is a "missense" mutation in the SLC35A3 - gene basis, that the solute carrier family belongs family.

This gene plays a role in SLC35A3-CDG (Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome) in humans .

literature

  • JS Agerholm, C. Bendixen, O. Andersen, J. Arnbjerg: Complex vertebral malformation in holstein calves. In: Journal of veterinary diagnostic investigation: official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc. Vol. 13, No. 4, July 2001, pp. 283-289, doi: 10.1177 / 104063870101300401 , PMID 11478598 .

Individual evidence

  1. ↑ a b c B. Thomsen: A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. In: Genome Research. Vol. 16, 2005, p. 97, doi: 10.1101 / gr.3690506 .
  2. ↑ vetbook ( Memento of the original from February 17, 2018 in the Internet Archive ) Info: The archive link was inserted automatically and not yet checked. Please check the original and archive link according to the instructions and then remove this notice. @1@ 2Template: Webachiv / IABot / vetbook.org
  3. ↑ B. Thomsen, P. Horn, F. Panitz, E. Bendixen, AH Petersen, LE Holm, VH Nielsen, JS Agerholm, J. Arnbjerg, C. Bendixen: A missense mutation in the bovine SLC35A3 gene, encoding a UDP- N-acetylglucosamine transporter, causes complex vertebral malformation. In: Genome research. Vol. 16, No. 1, January 2006, pp. 97-105, doi: 10.1101 / gr.3690506 , PMID 16344554 , PMC 1356133 (free full text).
  4. ↑ Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome. In: Orphanet (Rare Disease Database).