In other species: emu , dog , taurine cattle , sheep

Categories: Lysosomal storage disease , Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 230500 (trait) , 230650 (trait) , 230600 (trait) , 253010 (trait) , 611458 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2008

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of GM1 gangliosides (a type of glycolipid) in various tissues, due to the lack of the enzyme beta-galactosidase, whose task is to break down the GM1 ganglioside into its constituents. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.

Species-specific name: beta-galactosidase-1 deficiency

Molecular basis: Martin et al. (2008) reported the causal mutation as "a G to C substitution at position 1448 of the open reading frame [of GLB1], resulting in an amino acid substitution at arginine 483, known to cause G(M1) gangliosidosis in humans". Uddin et al. (2013) identified the same mutation in two affected cats from Bangladesh, indicating that this mutation is widespread. Ueno et al. (2016) reported an affected Japanese domestic cat that did not have the only known likely causal variant, namely c.1448G>C (above), "suggesting that the cat was affected with a new variant of the feline disease".

Breeds: Japanese domestic, Korat (Cat) (VBO_0100143), Siamese (Cat) (VBO_0100221).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: