@article{4210,
  keywords = {SLC2A2, GLUT2, GON4L, haplotype, FH2},
  author = {T Punsmann and M Braun and C Dierks and J Metzger and M Höltershinken and P Wenning and L Rotsch and O Distl},
  title = {Growth retardation-syndrome in Fleckvieh heifers and literature review on dwarfism in cattle},
  abstract = {Two Fleckvieh heifers from the same dairy farm were born at term with normal body size and weight for their breed. Growth rate was severely reduced from an age of three to four months. Case 1 became evident in 2014 and case 2 in 2016. The sire of case 1 was a carrier of the Fleckvieh-haplotype 2 (FH2) associated with the Fanconi-Bickel syndrome. The affected heifers had a common male ancestor three (case 1) and four (case 2) generations back. The relationship coefficient between the two cases was 1.65% and both cases had a homozygosity region (ROH) at the FH2-haplotype region in common. The clinical, laboratory and pathohistological examinations suggest a mild form of the Fanconi-Bickel syndrome. Sequencing amplicons containing the genetic variants rs379675307 and rs723240647 located within SLC2A2 and GON4L for both cases did not confirm the disease associated mutations. Further PLD4 and APOB mutations associated with reduced growth were excluded using sequence analysis or PCR-based RFLP. In conclusion, the present cases present a not yet known mild form of the Fanconi-Bickel syndrome in Fleckvieh which cannot be explained through the previously reported mutation within SLC2A2 associated with growth retardation or the GON4L variant associated with dwarfism in Fleckvieh. Common ancestry, phenotypically normal parents and FH2-ROH suggest a recessive condition.},
  year = {2017},
  journal = {Berliner und Münchener Tierärztliche Wochenschrift},
  volume = {130},
  month = {12/2017},
  publisher = {Schlütersche Verlagsgesellschaft mbH & Co. KG},
  address = {Hannover},
  issn = {0005-9366},
  doi = {10.2376/0005-9366-17031},
  language = {English},
}