A Homozygous Stop Codon in EHPB1L1 is associated with dyserythropoiesis and polymyopathy in two Labrador retriever littermates

A clinical syndrome of congenital dyserythropoiesis and polymyopathy was first reported in 1991 in young, related male and female English springer spaniel dogs and many years later in 2021 in young male Labrador retriever littermates. Here we used whole genome sequencing (WGS) and mapping to a dog reference genome assembly to identify a likely genetic basis for this syndrome in one of the Labrador retrievers.