两例ELANE基因突变所致先天性中性粒细胞减少症患者的临床及遗传学分析  

Clinical and genetic analysis of two patients with congenital neutropenia caused by ELANE gene mutation

作　　者：刘晖[1] 刘光华[1] 赵培然 黄靓[1] 周有峰 邱晓剑[1] 徐两蒲[2] Liu Hui;Liu Guanghua;Zhao Peiran;Huang Liang;Zhou Youfeng;Qiu Xiaojian;Xu Liangpu(Department of Pediatrics,Fujian Provincial Maternity and Children’s Hospital,Affiliated Hospital of Fujian Medical University,Fuzhou,Fujian 350001,China;Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect,Fujian Provincial Maternity and Children’s Hospital,Affiliated Hospital of Fujian Medical University,Fuzhou,Fujian 350001,China)

机构地区：[1]福建医科大学附属医院福建省妇幼保健院儿科,福州350001 [2]福建医科大学附属医院福建省妇幼保健院福建省产前及出生缺陷重点实验室,福州350001

出　　处：《中华医学遗传学杂志》2020年第10期1097-1100,共4页Chinese Journal of Medical Genetics

摘　　要：目的探讨ELANE基因突变所致的先天性粒细胞减少症(congenital neutropenia,CN)的临床特点。方法对两例发生反复感染的CN患儿的临床表现、外周血中性粒细胞计数、高通量全外显子组测序结果进行回顾,对疑似位点通过Sanger测序进行验证。结果全外显子组测序发现先证者1 ELANE基因第2外显子存在c.170C>T(p.Ala57Val)错义突变;先证者2 ELANE基因第3外显子存在c.251T>G(p.Leu84Arg)错义突变,既往未见报道。Sanger测序提示两例患儿的父母均未携带上述突变。结论ELANE是CN的重要致病基因,新致病变异的检出丰富了其突变谱。Objective To explore the clinical characteristics of congenital neutropenia caused by ELANE gene mutations.Methods Clinical manifestations,absolute blood neutrophil count,high-throughput exome sequencing for mutation screening,suspected locus Sanger sequencing verification,processes of diagnosis and treatment of two patients with congenital neutropenia caused by ELANE gene mutation were retrospectively analyzed.Results High-throughput sequencing has found that proband 1 has carried a heterozygous c.170C>T(p.Ala57Val)missense mutation in exon 2 of the ELANE gene,which was known to be pathological,and a heterozygous c.251T>G(p.Leu84Arg)mutation in exon 3 of proband 2,which was unreported previously.Sanger sequencing confirmed that neither mutation was inherited from their parents.Conclusion ELANE mutation is an important cause for congenital neutropenia.Detection of new pathogenic variants has enriched the mutation spectrum of the ELANE gene.

关 键 词：先天性中性粒细胞减少症 反复感染 ELANE基因 

分 类 号：R725.9[医药卫生—儿科]