Here we describe a compound heterozygote in LYST gene, consisting of a missense mutation NM_000081.2:c.5719A > G (p.Ile1907Val) and a intron mutation NC_000001.10:g.235945391C > T (c.4863-4G > A), which was identified in a 4-year-old female patient with CHS. The gene discussed is LYST; the disease is Chediak-Higashi syndrome.