Hypomyelinogenesis, congenital
- Phene ID
- 2141
- Name
- Hypomyelinogenesis, congenital
- Phene Name
- Charolais ataxia; Progressive ataxia of Charolais
- OMIA ID
- 527
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2018
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1005 | Progressive ataxia | 388269639 | 1 | 19 | NC_037346.1:g.26407668C>T | NM_001205802.2:c.608G>A | NP_001192731.2:p.(R203Q); p.(R203_T204delinsQ*) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Angus (Cattle) | 44 | 9913 | http://purl.obolibrary.org/obo/VBO_0000104 |
| Charolais (Cattle) | 19 | 9913 | http://purl.obolibrary.org/obo/VBO_0000177 |
| Uckermärker, Germany (Cattle) | 1142 | 9913 | http://purl.obolibrary.org/obo/VBO_0004643 |
From the published literature, Duchesne and Eggen (2005) concluded that this disorder is "probably autosomal and recessive".
By comparing whole-genome sequenced data (from 2 affecteds and one control) in the candidate region (see Mapping section), and filtering resultant candidate variants, Duchesne et al. (2018) narrowed the field down to "a single substitution in exon 5 of KIF1C (chr19:27041449 C/T). For easier comprehension and since KIF1C gene in cattle is on the reverse strand, the substitution will be referred as KIF1C G>A in order to match with the transcription sense". Subsequent testing for this variant in "143 Charolais animals, including 70 of the 71 cases suspected of progressive ataxia for which DNA was available" enabled Duchesne et al. (2018) to report that "most of the suspected ataxia cases (60/70) were homozygous for the KIF1C G>A substitution, including the histopathologically confirmed cases. The other 10 cases were either heterozygous for this mutation or WT, which indicates the possibility of other neurodegenerative syndromes in the Charolais breed, especially because the analysis of the genotypes in these cases was not concordant with the defined genetic interval".