Multiple ocular defects in Old English Sheepdog

A missense mutation c.1775T>C in the COL11A1 gene, encoding alpha-1 chain of type XI collagen, has been identified in the bobtail breed and causes multiple eye defects. These may include cataracts, bilateral vitreous degeneration, macrophthalmia (abnormal enlargement of the eye), changes in lens shape, retinal detachment or inflammatory deposits on the eye.

The mode of inheritance of this mutation is autosomal dominant. This means that it only one copy of the mutated gene inherited from one parent causes the symptoms of the disease. The genetic test can identify the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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Литература:

Stanbury, K., Stavinohova, R., Pettitt, L., Dixon, C., Schofield, E.C., Mclaughlin, B., Pettinen, I., Lohi, H., Ricketts, S.L., Oliver, J.A., Mellersh, C.S. : Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1. PLoS One 18:e0295851, 2023. Pubmed reference: 38153936