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OMIA 001953-9913 : Arthrogryposis, lethal syndrome in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Species-specific name: Lethal arthrogyposis syndrome

History: This form of arthrogryposis was first reported by Sartelet et al. (2015).

Mapping: By conducting a GWAS on 15 affected calves and 125 normal bulls, each genotyped (in effect) for 34,368 SNPs, Sartelet et al. (2015) mapped this disorder to a 2.2 MB region of bovine chromosome BTA10: "chr10:78,424,435-80,602,211 bp; Bos taurus assembly: BosTau6/UMD3".

Molecular basis: Splicing variant 10 bp upstream of the intron1/exon 2 boundary (c211-10C>G) at position 79,814,520 (Bos taurus assembly: BosTau6/UMD3), leading to skipping of exon 2 (Sartelet et al., 2015)

Clinical features: Sartelet et al. (2015) summarised the clinical signs of this newly-recognised disorder in Belgian Blue cattle as "Affected calves were all characterized by arthrogryposis (hooked joints) of the four limbs, severe scoliosis (curved spine), and a stocky head with macroglossy and impaired tooth eruption. A majority of cases suffered from cleft palate (20/25) and upper lip (3/25), omphalocele (abdominal wall defect with umbilical hernia; 19/25) and corneal clouding (21/25)".

Breed: Belgian Blue.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PIGH phosphatidylinositol glycan anchor biosynthesis class H Bos taurus 10 NC_037337.1 (79474713..79466239) PIGH Homologene, Ensembl, NCBI gene

Variants

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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
Belgian Blue Arthrogryposis, lethal syndrome PIGH splicing UMD3.1.1 10 g.79814520C>G c.211-10C>G rs451004237 2015 25895751 Variant information gleaned from or confirmed by Table 1 of  Sharma et al. (2017) Animal Genetics 48(3):369-370
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Reference


2015 Sartelet, A., Li, W., Pailhoux, E., Richard, C., Tamma, N., Karim, L., Fasquelle, C., Druet, T., Coppieters, W., Georges, M., Charlier, C. :
Genome-wide next-generation DNA and RNA sequencing reveals a mutation that perturbs splicing of the phosphatidylinositol glycan anchor biosynthesis class H gene (PIGH) and causes arthrogryposis in Belgian Blue cattle. BMC Genomics 16:316, 2015. Pubmed reference: 25895751. DOI: 10.1186/s12864-015-1528-y.

Edit History


  • Created by Frank Nicholas on 19 Apr 2015
  • Changed by Frank Nicholas on 19 Apr 2015