A PLA2G6 Mutation in Papillon Dogs in Neuroaxonal Dystrophy - Whole exome sequence using Agilent SureSelect and SOLiD

We conducted whole exome sequencing analysis against neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide in Papillon dogs. The disease is first reported in 1995 in England, and since then the disease has sporadically occurred in Japan. Affected dogs initially develop intention tremor and hypermetria at a very young age, and the symptoms gradually progress to cerebellar ataxia, tetraplegia, blindness, and deafness. It is considered as an autosomal recessive monogenic disease, which is histopathologically characterized by severe axonal swelling, known as spheroids, throughout the central nervous system. By sequencing the total eleven DNA samples from one NAD-affected Papillon dog and her parents, two unrelated NAD-affected Papillon dogs, and six unaffected control Papillon dogs, we identified 10 candidate mutations.