Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

This study is only the second to identify the molecular genetic basis of a feline NCL. Other cats exhibiting similar signs can now be screened for the CLN6 variant. This could lead to establishment of a feline model of CLN6 disease that could be used in therapeutic intervention studies.

Source: G3: Genes Genomes Genetics - August 4, 2020 Category: Genetics & Stem Cells Authors: Katz, M. L., Buckley, R. M., Biegen, V., OBrien, D. P., Johnson, G. C., Warren, W. C., Lyons, L. A. Tags: Investigations Source Type: research