Conflict of Interest: Nothing to report.
A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome†
Article first published online: 4 FEB 2011
Copyright © 2011 Wiley-Liss, Inc.
Pediatric Blood & Cancer
Volume 56, Issue 7, pages 1136–1139, 1 July 2011
How to Cite
Kaya, Z., Ehl, S., Albayrak, M., Maul-Pavicic, A., Schwarz, K., Kocak, U., Ergun, M. A. and Gursel, T. (2011), A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome. Pediatr. Blood Cancer, 56: 1136–1139. doi: 10.1002/pbc.22878
- Issue published online: 12 APR 2011
- Article first published online: 4 FEB 2011
- Manuscript Accepted: 21 SEP 2010
- Manuscript Received: 25 JUN 2010
- Chediak Higashi syndrome;
- LYST gene;
- point mutation
Chediak Higashi syndrome (CHS) is an autosomal-recessive disorder characterized by oculocutaneous albinism, recurrent infections and a progressive primary neurological disease. Here, we describe two siblings with CHS due to a novel homozygous R1836X mutation in the LYST gene associated with loss of NK cell degranulation and cytotoxicity. While one sibling was born with fair skin and hair and died of hemophagocytic lymphohistiocytosis (HLH) at 5 months of age, the other sibling had dark black hair and skin and developed HLH at the age of 4 years. Pediatr Blood Cancer 2011;56:1136–1139. © 2011 Wiley-Liss, Inc.