Analysis of the lysosomal storage disease Chediak-Higashi syndrome

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder of hu man, mouse (beige) and other mammalian species. The same genetic defect was found to result in the disease in ail species identified, permitting a pos itional cloning approach using the mouse model beige to identify the respon sible gene. The CHS gene was cloned and mutations identified in affected sp ecies. This review discusses the clinical features of CHS contrasting featu res seen in similar syndromes. The possible functions of the protein encode d by the CHS/beige gene are discussed, along with the alterations in cellul ar physiology seen in mutant cells.