Gene involved ARSG
Mutation tested c.296G>A (NCL-A)
Transmission mode : Autosomal recessive
Publication : Abitbol et al. (2010). A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
Gene involved CLN5
Mutation tested c.619C>T
Transmission mode : Autosomal recessive
Publication : Melville et al. (2005). A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.
Gene involved ATP13A2
Mutation tested c.1623delG
Transmission mode : Autosomal recessive
Publication :
Farias et al. (2011). A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.
Wöhlke et al. (2011). A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.
Gene involved CLN8
Mutation tested c.491T>C (NCL-D)
Transmission mode : Autosomal recessive
Publication : Katz et al. (2005). A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis.
Gene involved CTSD
Mutation tested c.597G>A (NCL-E)
Transmission mode : Autosomal recessive
Publication : Awano et al. (2006). A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis.
Gene involved CLN5
Mutation tested c.934_935delAG
Transmission mode : Autosomal recessive
Publication : Gilliam et al. (2015). Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5.
Gene involved MFSD8
Mutation tested c.843delT
Transmission mode : Autosomal recessive
Publication : Guo ey al. (2015). A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.
Gene involved CLN8
Mutation tested g.30852988_30902901del4 9913
Transmission mode : Autosomal recessive
Publication : Hirz et al. (2016). Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenlandische Dachsbracke dog.
Gene involved PPT1
Mutation tested c.736_737insC
Transmission mode : Autosomal recessive
Publication : Sanders et al. (2010). A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund.
Gene involved ATP13A2
Mutation tested c.1118C>T
Transmission mode : Autosomal recessive
Publication : Schmutz et al. (2019). ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis.
Gene involved TPP1
Mutation tested c.325delC
Transmission mode : Autosomal recessive
Publication : Awano et al. (2006). A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis.
Gene involved CLN6
Mutation tested c.829T>C (NCL6)
Transmission mode : Autosomal recessive
Publication : Katz et al. (2011). A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis.
Gene involved CLN8
Mutation tested c.585G>A (NCL8)
Transmission mode : Autosomal recessive
Publication : Guo et al. (2014). A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.