Table 2 Association of the SINE insertion with cerebellar dysfunction
Genotype ATP1B2:c.130_131ins227wt/wtwt/insins/ins
Malinois cases (family 6 and MA133)5
Malinois cases (families 1–5 and six isolated puppies)a131
Malinois controls19938
Groenendael controls241
Laekenois controls2
Tervueren controls287
Control dogs from other breedsb503
  • a Six of these Malinois puppies, which belonged to family 1–4, and one isolated case, MA152, were previously reported to be affected by SDCA1 caused by the KCNJ10:c.986T>C variant (Mauri et al. 2017).

  • b These dogs were specifically genotyped by fragment length analysis for the ATP1B2:c.130_131ins227 variant. The genome sequences of 146 independent control dogs were also homozygous wt/wt. Therefore, the number of control dogs totals 948.