Journal of Heredity Advance Access published online on July 4, 2007
Journal of Heredity, doi:10.1093/jhered/esm043
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mutation in HSF4 Associated with Early but Not Late-Onset Hereditary Cataract in the Boston Terrier
From the Animal Health Trust, Lanwades Park, Newmarket, Suffolk, CB8 7UU, UK (Mellersh, McLaughlin, Pettitt, Vaudin, and Barnett); and the Department of Veterinary Science, University of Kentucky, Lexington, KY 40546-0076 (Graves and Ennis)
Address correspondence to C. S. Mellersh at the address above, or e-mail: cathryn.mellersh{at}aht.org.uk.
Primary hereditary cataract (HC) is one of the most common disorders in purebred dogs and is a leading cause of blindness. Boston Terriers suffer from 2 distinct forms of HC which occur at different ages and which are different in their appearance and progression. Early-onset hereditary cataract (EHC) affects dogs within the first few months of life, is always progressive and bilateral, and results in total blindness, whereas late-onset hereditary cataract (LHC) in general affects dogs over the age of 3 and is more variable in its clinical phenotype, age of onset, progression, and the degree to which vision is impaired. A mutation in HSF4 has recently been reported in a small number of Boston Terriers affected with EHC. In this study, we analyzed 22 additional Boston Terriers affected with early-onset cataract to confirm that the HSF4 mutation is causative for this form of cataract in this breed. In addition, we analyzed 40 Boston Terriers that were either clinically clear or affected with LHC for the presence or absence of the HSF4 mutation. By also sequencing HSF4 in dogs affected with LHC, we conclude that HSF4 is not associated with the development of the late-onset form of cataract and that the 2 forms of cataract in this breed are therefore genetically discrete conditions.
This paper was delivered at the 3rd International Conference on the Advances in Canine and Feline Genomics, School of Veterinary Medicine, University of California, Davis, CA, August 3–5, 2006.