Peer-reviewed veterinary case report
Sandhoff disease in Japanese cats caused by HEXB gene mutation
By Kanae, Y et al.·Published in Research in veterinary science·2007·Department of Veterinary Radiology, Japan·View original on PubMed →
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Original publication title: Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats.
- Species:
- cat
Plain-English summary
A family of Japanese domestic cats was diagnosed with Sandhoff disease, a serious inherited metabolic disorder that affects their ability to break down certain fats. The affected cats showed symptoms related to neurological issues due to a mutation in a specific gene (HEXB) that is crucial for enzyme function. Genetic testing confirmed this mutation, which can help veterinarians diagnose the condition more accurately alongside enzyme tests. Unfortunately, Sandhoff disease is progressive and currently has no cure, so affected cats will need supportive care to manage their symptoms.
People also search for: cat Sandhoff disease symptoms · Japanese domestic cat genetic disorders · feline metabolic disease treatment
Abstract
G(M2) gangliosidoses are inherited metabolic disorders and are caused by severely reduced enzymatic activity of lysosomal beta-hexosaminidase. In the present study, the open reading frame (ORF) of the HEXB gene in a family of Japanese domestic cats with G(M2) gangliosidosis variant 0 (Sandhoff disease) was determined. Two types of abnormal cDNA clones were obtained from the liver of an affected cat tissue. One showed a single nucleotide substitution from C to T at nucleotide position 667 of the HEXB ORF. In the deduced amino acid sequence, the codon of arginine was altered to a stop codon. The genotyping, using PCR-primer introduced restriction analysis confirmed that Sandhoff disease in this family is associated with this nonsense mutation. Discovery of the nonsense mutation will permit the confirmation of the clinical diagnosis of Sandhoff disease in conjugation with the already established enzyme-based test.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/16872651/