A novel mutation in PDE6B in Spanish Water Dogs with early-onset progressive retinal atrophy.

摘要: Objective To identify the underlying mutation in a recently identified early-onset progressive retinal atrophy (PRA) Spanish Water Dog (SWD) breed. Animal studied Eighteen SWDs were used this study. Six diagnosed with PRA and 12 phenotypically normal SWDs. Procedures An exclusion analysis using an established microsatellite panel to screen candidate genes was combined whole genome sequencing of two affected SWD siblings (a sibling dam). Results A 6-bp deletion exon 19 PDE6B removing highly conserved amino acids from enzymatic domain protein (c.2218-2223del; p.Phe740_Phe741del). This segregated disease status small study pedigree. Conclusions Identification novel adds already described mutations responsible for Irish Setter, Sloughi, American Staffordshire Terrier dog breeds. DNA-based test designed allow breeders genotype their animals make informed breeding decisions effort eradicate