Arnold-Chiari malformation
- Phene ID
- 141
- Name
- Arnold-Chiari malformation
- Phene Name
- Congenital syndromic Chiari-like malformation
- OMIA ID
- 61
- Species ID
- 9913
- Characterised
- No
- Characterised Year
- N/A
Jacinto et al. (2024) "collected a series of 14 CSCM[congenital syndromic Chiari-like malformation]-affected Holstein calves (13 purebred, one Red Danish Dairy F1 cross) and performed whole-genome sequencing (WGS). ... filtering for protein-changing variants that were only homozygous in the genomes of the individual cases allowed the identification of two missense variants affecting different genes, SHC4 in case 4 in group 1 and WDR45B in case 13 in group 3. ... Filtering for heterozygous private protein-changing variants identified one DYNC1H1 frameshift variant as a candidate causal dominant acting allele in case 12 in group 3. Finally, the presence of larger structural DNA variants and chromosomal abnormalities was investigated in all cases. Depth of coverage analysis revealed two different partial monosomies of chromosome 2 segments in cases 1 and 7 in group 1 and a trisomy of chromosome 12 in the WDR45B homozygous case 13 in group 3."