A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis.
J Vet Intern Med
; 34(1): 289-293, 2020 Jan.
Article
in En
| MEDLINE
| ID: mdl-31860737
ABSTRACT
A 2-year-old male domestic shorthair cat was presented for a progressive history of abnormal posture, behavior, and mentation. Menace response was absent bilaterally, and generalized tremors were identified on neurological examination. A neuroanatomical diagnosis of diffuse brain dysfunction was made. A neurodegenerative disorder was suspected. Magnetic resonance imaging findings further supported the clinical suspicion. Whole-genome sequencing of the affected cat with filtering of variants against a database of unaffected cats was performed. Candidate variants were confirmed by Sanger sequencing followed by genotyping of a control population. Two homozygous private (unique to individual or families and therefore absent from the breed-matched controlled population) protein-changing variants in the major facilitator superfamily domain 8 (MFSD8) gene, a known candidate gene for neuronal ceroid lipofuscinosis type 7 (CLN7), were identified. The affected cat was homozygous for the alternative allele at both variants. This is the first report of a pathogenic alteration of the MFSD8 gene in a cat strongly suspected to have CLN7.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Membrane Transport Proteins
/
Cat Diseases
/
Frameshift Mutation
/
Neuronal Ceroid-Lipofuscinoses
Type of study:
Prognostic_studies
Limits:
Animals
Language:
En
Journal:
J Vet Intern Med
Journal subject:
MEDICINA INTERNA
/
MEDICINA VETERINARIA
Year:
2020
Document type:
Article
Affiliation country:
Switzerland