Objective: To explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS).
Methods: Clinical data of two CHS patients from the pedigree was collected and analyzed. Targeted next generation sequencing and Sanger sequencing were conducted to detect potential mutation of the LYST gene.
Results: Both patients presented immunodeficiency, oculocutaneous albinism, and acidophilic inclusion body on bone marrow and blood smears. A homozygous c.6077_6078insA (p.Tyr2026Terfs) mutation was detected in the LYST gene in both patients.
Conclusion: Genetic testing can play an important role in the diagnosis of CHS.