OMIA:001953-9913 : Arthrogryposis, lethal syndrome in Bos taurus (taurine cattle) |
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600154 (gene) , 618010 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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 (Cattle) (VBO_0000139).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
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 (79474711..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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 406 | Belgian Blue (Cattle) | Arthrogryposis, lethal syndrome | PIGH | splicing | Naturally occurring variant | ARS-UCD1.3 | 10 | NC_037337.1:g.79469727G>C | NM_001038116.2: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 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2015). OMIA:001953-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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