Late onset hereditary cataract in the Boston Terrier: A whole genome sequencing approach

Abstract: Identifying causative mutations for non-syndromic cataract in dogs has proved to be frustrating; with only one gene (HSF4) being discovered to date that harbors mutations associated with cataract in four breeds of dogs, including the Boston Terrier. At least two types of cataract are found in the Boston Terrier, an early-onset hereditary cataract (EHC) caused by the HSF4 mutation, and a late-onset hereditary cataract (LHC) found in dogs over four years of age. Factors confounding the discovery of additional mutations include inconsistencies in tracking cataract progression, such as age of onset and rate of progression, in addition to the phenotype of the cataracts. Advances in genetic technologies such as whole genome sequencing provide a potential avenue to discovery of the causative mutations for hereditary cataracts in dogs, which present such a vexing problem for breeders and owners. This study aims to take advantage of the significant decrease in the cost of whole genome sequencing of individual animals, coupled with access to a family of Boston Terriers where cataract occurrence and progression has been tracked across generations.