OMIA 001595-9940 : Brachygnathia, cardiomegaly and renal hypoplasia syndrome in Ovis aries

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Species-specific symbol: BCRHS

History: This lethal disorder was first described by Shariflou et al. (2011). Its clinical signs are well described by its name.

Mapping: By genotyping 10 affected and 27 control Merinos, each with the Illumina Ovine SNP50 BeadChip (yielding 40,899 informative SNPs), Shariflou et al. (2013) used GWAS and homozygosity mapping to locate this disorder to "a region comprising 20 consecutive SNPs spanning 1.1 Mb towards the distal end of chromosome OAR2".

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.
2013 Shariflou, M.R., Wade, C.M., Kijas, J., McCulloch, R., Windsor, P.A., Tammen, I., Nicholas, F.W. :
Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS) in Merino sheep maps to a 1.1-megabase region on ovine chromosome OAR2. Anim Genet 44:231-3, 2013. Pubmed reference: 22762779. DOI: 10.1111/j.1365-2052.2012.02392.x.
2011 Shariflou, M., Wade, C., Windsor, P., Tammen, I., James, J.W., Nicholas, F.W. :
Lethal genetic disorder in Poll Merino/Merino sheep in Australia. Aust Vet J 89:254-9, 2011. Pubmed reference: 21696373. DOI: 10.1111/j.1751-0813.2011.00789.x.

Edit History


  • Created by Frank Nicholas on 03 Aug 2011
  • Changed by Frank Nicholas on 06 Jul 2012
  • Changed by Frank Nicholas on 26 Aug 2013