Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle

Table 1 Conflicts between clinical/genetic diagnosis and targeted genotyping for the SNP Chr4:49,878,773 bp

Animal ID	Clinical or genetic diagnosis from the 1990s	Genotype at SNP_49878773	Genotype at SNP_50858538
W0045	Affected	CT	GA
W0068	Affected	CT	GA
W0084	Affected	CC	GG
W0125	Affected	CT	AA
W0226	Carrier (MS test)	CC	GG

Capital letters represent the animals’ genotypes (SNP_49878773 genotypes: C: reference allele, T: alternative allele; additional information on SNP_50858538 genotypes: G: reference allele, A: alternative allele). MS test: indirect genetic test for Weaver syndrome based on six microsatellite markers (RM188, MAF50, RM067, TGLA116, BM1224, BM6458); animals with an estimated risk of ≥95 % of carrying the Weaver allele were declared as carriers and excluded from further breeding

ISSN: 1297-9686