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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| 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 |
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