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July 2019 – PBGVCA Health Committee Reference Center

Glaucoma-causing ADAMTS17 Mutations

Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma

BioMed Central Ltd, Canine Genetics & Epidemioloy, May 17, 2019
By Emily C. Jeanes, James A. C. Oliver, Sally L. Ricketts, David J. Gould & Cathryn S. Mellersh

In humans, ADAMTS17 mutations are known to cause Weill-Marchesani-like syndrome, which is characterised by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Breed-specific homozygous mutations in ADAMTS17 are associated with primary open angle glaucoma (POAG) in several dog breeds, including the Petit Basset Griffon Vendeen (PBGV) and Shar Pei (SP). We hypothesised that these mutations are associated with short stature in these breeds. Learn more

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