Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>Genetic testing can play an important role in the diagnosis of CHS.</p>