Vet Pathology Wiki

Choose the correct answer

Chediak-Higashi syndrome is caused by which of the following mutations?

An autosomal recessive mutation in the NADPH oxidase gene

An autosomal recessive mutation in the myeloperoxidase gene

An autosomal recessive mutation in the LYST gene

An autosomal recessive mutation in the Actin gene

LYST is important in intracellular trafficking so granules and lysosomes do not get moved correctly inside the cell. This causes:

Defective degranulation of neutrophils
Defective microbial killing
Dilution in coat color - melanin granules are not transported from melanocytes into nearby keratinozytes.