Table 3. Association of non-synonymous variants with DWLM.
| Genotype | Eurasier cases (n = 9) | Eurasier obligate carriers a (n = 6) | Eurasier controls (n = 19) | Dogs from other breeds b (n = 546) |
|---|---|---|---|---|
| VLDLR:c.1713delC | ||||
| C/C | - | - | 14 | 545 |
| C/del | - | 6 | 5 | - |
| del/del | 9 | - | - | - |
| CDC37L1:c.960A>C | ||||
| A/A | - | - | 11 | 47 |
| A/C | - | 5 | 7 | - |
| C/C | 9 | 1 | 1 | - |
| SPATA31E1:c.3782A>T | ||||
| A/A | - | - | 1 | 47 |
| A/T | 1 c | 4 | 13 | - |
| T/T | 8 | 2 | 5 | - |
| PPAPDC2:c.202G>A | ||||
| G/G | - | - | 8 | 46 |
| A/G | - | 1 | 3 | - |
| A/A | 9 | 3 | 4 | - |
ᵃ Parents of affected dogs were classified as obligate carriers.
b These dogs consist of 47 control dogs with whole genome sequences (S1 Table) and 499 control dogs that were specifically genotyped for the VLDLR:c.1713delC variant (S2 Table). One of the whole genome sequences (sample BC273) did not have any coverage at the VLDLR:c.1713delC and the PPAPDC2:c.202G>A variant.
c The 9 cases carried identical homozygous marker haplotypes in the critical interval. Thus the heterozygous genotype at this position in one of the cases was quite unexpected. We speculate that it may be due to an ancestral gene conversion event or, alternatively, a de novo revertation mutation.