In other species: giant otter , domestic cat , cattle , goat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 278300

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Molecular basis: Furrow et al. (2016) reported in a conference abstract the identification of three likely disease-causing mutations for xanthine urolithiasis. Affected Cavalier King Charles Spaniels had a mutation resulting in a premature stop codon in the molybdenum cofactor sulfurase gene (MOCOS), affected Toy Manchester Terriers had a splice site mutation in MOCOS, and an affected mixed breed dog had a splice site mutation in the xanthine dehydrogenase (XDH) gene. The authors developed mutation-specific assays and reported results in the abstract that suggest that the mutations segregate with disease. Further details about the mutations were not provided in the abstract.