A recessive variant associated with hydrocephalus with retinal dysplasia and muscular dystrophy in Hereford cattle

Hydrocephalus has been documented in Hereford cattle since the mid 1900s. Recently, an affected calf resulting from a consanguineous mating was reported. Additional test matings resulted in two additional affected calves, allowing for clinical assessment of the calves and a genomic investigation. As a result of this work, Hereford hydrocephalus was associated with a splice site variant of CRPPA. In addition to hydrocephalus, retinal dysplasia and extreme muscular dystrophy were observed, similar to human Walker-Warburg Syndrome.