Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1.

ABSTRACT:

Background

Lethal chondrodysplasia (bulldog syndrome) is a well-known congenital syndrome in cattle and occurs sporadically in many breeds. In 2015, it was noticed that about 12% of the offspring of the phenotypically normal Danish Holstein sire VH Cadiz Captivo showed chondrodysplasia resembling previously reported bulldog calves. Pedigree analysis of affected calves did not display obvious inbreeding to a common ancestor, suggesting the causative allele was not a rare recessive. The normal phenotype of the sire suggested a dominant inheritance with incomplete penetrance or a mosaic mutation.

Results

Three malformed calves were examined by necropsy, histopathology, radiology, and computed tomography scanning. These calves were morphologically similar and displayed severe di

SUBMITTER: Agerholm JS 

PROVIDER: S-EPMC4906884 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature