Case Report
Chediak-Higashi Syndrome with Novel Gene Mutation
Mostafa Helmi Abdulaziz*Department of Endocrinology, Dubai Hospital, Alkhaleej, Dubai, UAE
- *Corresponding Author:
- Mostafa Helmi Abdulaziz
Department of Endocrinology, Dubai Hospital, Alkhaleej, Dubai, UAE
Tel: +00971507889196
E-mail: mailto:mhAbdulAziz@dha.gov.ae
Received date: June 8, 2016; Accepted date: July 28, 2016; Published date: August 5, 2016
Citation: Abdulaziz MH (2016) Chediak-Higashi Syndrome with Novel Gene Mutation. J Gastrointest Dig Syst 6:463. doi:10.4172/2161-069X.1000463
Copyright: © 2016 Abdulaziz MH, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Abstract
Chediak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. This syndrome is caused by mutations in the CHS1/LYST gene located on chromosome 1. It leads to abnormal intracellular protein transport and alters lysosomes granules function and morphology. Herein, we report a case of CHS. This two-and-half-years-old boy presented with . Genetic evaluation revealed novel mutations in the CHS1 gene: c.6159_6160del (p.Met2053Ilefs*31) variant, which has not previously described in any literature. To date less than 75 mutations have been described for this syndrome. This case is reported for its novel mutation and absent accelerated phase to date. Awareness, early recognition, and management of the condition may prevent the preterm morbidity associated.
