Feline Chediak-Higashi syndrome

Chediak-Higashi Syndrome (CHS) is a well-characterized autosomal recessive inherited lysosomal disease caused by mutations in lysosomal trafficking regulator (LYST). Feline CHS was first noted in a lineage of Persian cats, and as in mice, the sentinel presentation was hypopigmentation. The clinical characterization of the feline model for CHS examined neutrophil and platelet functions and auditory and ocular pigmentation abnormalities. To identify the causative mutation for CHS segregating within a feline research colony, a fibroblast cell line derived from an affected individual was whole genome sequenced.