Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.

ABSTRACT:

Background

Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homology to other species such as bovine and mouse. To date, 74 pathogenic or likely pathogenic mutations had been reported.

Case presentation

Here we describe a compound heterozygote in LYST gene, which was identified in a 4-year-old female patient. The patient showed skin hypopigmentation, sensitivity to light, mild splenomegaly and reduction of platelets in clinical examination. Giant intracytoplasmic inclusions were observed in the bone marrow examination, suggesting the diagnosis of CHS. Amplicon sequencing was performed to detect

SUBMITTER: Song Y 

PROVIDER: S-EPMC6943916 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature