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

• Main Authors: Joycelyn Assimeng Dame (Author), Lee-Ann Phillips (Author), Nico de Villiers (Author), Komala Pillay (Author), Carol Hlela (Author), Brian Eley (Author)
• Format: Book
• Published: Elsevier, 2019-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...