A novel LYST mutation causing Chédiak Higashi syndrome in a South African child

Abstract

Chédiak Higashi syndrome (CHS) is a disorder of immune dysregulation characterised by oculocutaneous albinism. This report describes a 10-week old female with clinical and laboratory features of CHS. Genetic analysis confirmed a novel mutation in the LYST gene, predicted to skip exon 42 of the gene and result in a truncated protein product. To the best of our knowledge there is no previous complete description of CHS in a patient in South Africa. Keywords: Chediak higashi syndrome, Novel LYST mutation, Accelerated phase, South african infant