OMIA:000890-9913 : Schistosomus reflexus in Bos taurus (taurine cattle)

In other species: ass (donkey) , horse , goat , sheep , water buffalo

Categories: Embryo phene

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: A foetus in which the edges of the somatic disc in the developing embryo have curved upwards instead of downwards, resulting in the viscera floating free in the amnion. The head and the tail are curved up towards each other. Dystocia is the usual result. Also called schistosoma reflexum.

Molecular basis: Jacinto et al. (2024) "collected a series of 23 [schistosomus reflexus] SR-affected calves from four breeds (20 Holstein, one Red Danish, one Limousin, one Romagnola) and performed whole-genome sequencing (WGS). ... Sequencing-based genome-wide association studies with 20 Holstein cases and 154 controls showed no association ... . Assuming a monogenic recessive inheritance, no region of shared homozygosity was observed, suggesting heterogeneity. Alternatively, the presence of possible dominant acting de novo mutations were assessed. In Group 1, heterozygous private variants, absent in both parents, were found in seven cases. These involved the ACTL6A, FLNA, GLG1, IQSEC2, MAST3, MBTPS2, and MLLT1 genes. In addition, heterozygous private variants affecting the genes DYNC1LI1, PPP2R2B, SCAF8, SUGP1, and UBP1 were identified in five cases from Group 2. The detected frameshift and missense variants are predicted to cause haploinsufficiency. ... This study presents for the first time a detailed genomic evaluation of bovine SR, suggesting that independent de novo mutations may explain the sporadic occurrence of SR in cattle."

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000890-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2024 Jacinto, J.G.P., Häfliger, I.M., Letko, A., Weber, J., Freick, M., Gentile, A., Drögemüller, C., Agerholm, J.S. :
Multiple independent de novo mutations are associated with the development of schistosoma reflexum, a lethal syndrome in cattle. Vet J :S1090-0233(24)00008-X:106069, 2024. Pubmed reference: 38281659. DOI: 10.1016/j.tvjl.2024.106069.
Mee, J.F., Murphy, D., Curran, M. :
Bovine congenital defects recorded by veterinary practitioners. Reprod Domest Anim 59:e14501, 2024. Pubmed reference: 37975255. DOI: 10.1111/rda.14501.
2023 Munif, M.R., Bhuiyan, M.M.U., Safawat, M.S., Rahman, M.S. :
Schistosomus reflexus dystocia in a crossbred dairy cow. Clin Case Rep 11:e8009, 2023. Pubmed reference: 37808575. DOI: 10.1002/ccr3.8009.
Park, W., Chai, H.H., Lim, D., Dang, C., Lee, J., Kim, J., Jeong, H., Lee, T., Lee, K.C., Lee, K. :
Case report: Investigation of genetic mutations in a case of schistosomus reflexus in a Holstein dairy cattle fetus in Korea. Front Vet Sci 10:1238544, 2023. Pubmed reference: 37671278. DOI: 10.3389/fvets.2023.1238544.
2002 Govaere, J.L.J., Vervaet, P., Aspeslach, O., de, Kruif, A. :
A schistosomus reflexus Belgian White and Blue twin calf Vlaams Diergeneeskundig Tijdschrift 71:355-358, 2002.
1999 Cavalieri, J., Farin, P.W. :
Birth of a Holstein freemartin calf co-twinned to a schistosomus reflexus fetus Theriogenology 52:815-826, 1999. Pubmed reference: 10735122.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 02 Nov 2011
  • Changed by Imke Tammen2 on 30 Jan 2024