Using targeted DNA capture and massively parallel resequencing of the 1.2 Mb region that contained 24 genes, Testoni et al. (2012) identified a causal mutation as a "KDM2B missense mutation (c.2503G>A) leading to an amino acid exchange (p.D835N) in an evolutionary strongly conserved domain". As the same authors report, "The KDM2B gene (also known as JHDM1B and FBXL10) encodes a histone H3 lysine 36 dimethyl (H3K36me2)-specific demethylase . . . Histone methylation is one important transcription regulatory system that affects mammalian development and cell differentiation". Murgiano et al. (2020) reported the same variant as being causal in an affected Marchigiana male still-born calf: "The affected animal was the offspring of consanguineous mating and homozygous presence of the KDM2B missense variant was confirmed. Both parents were heterozygous for [the] KDM2B [variant]". Also, as the authors noted, "it cannot be excluded that the variant already was present before the Marchigiana breed was established as distinct breed, and therefore it may represent the identical variant as in the Romagnola breed."
