一个Chediak-Higashi综合征家系的临床特征及基因突变分析

摘要

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.%目的 分析1个Chediak-Higashi综合征(Chediak-Higashi syndrome,CHS)家系中两例患儿的临床表型和基因突变之间的关系,探讨其发病机制.方法 对两例患儿的临床特征和辅助检查结果进行综合分析,并应用靶向捕获的高通量测序及一代测序技术对LYST基因进行突变分析.结果 两例患儿均有免疫缺陷,表现为呼吸道或消化道的反复感染,二者均表现出皮肤白化;骨髓细胞及血涂片检查两例患儿均出现粗大的嗜酸性包涵体颗粒;基因检测结果显示两例患儿的LYST基因均发生c.6077_6078insA(p.Tyr2026Terfs)的纯合突变.结论 基因检测在Chediak-Higashi综合征的诊断、治疗、预后等方面发挥重要的作用.