*5.1. BBS4*

A mutation in the *Bbs4*, (Bardet–Biedl syndrome 4) gene, was identified in Hungarian Puli dogs with PRA. This mutation (c.58A>T, p.Lys20Ter) is predicted to result in nonsense mediated decay of the *Bbs4* transcript. *BBS4* is one of the BBS genes involved in cilia function. These dogs showed a typical PRA phenotype along with noted obesity and abnormal sperm, although more a ffected dogs may need to be examined before confirming that this is a syndromic BBS model [95].
