X-连锁慢性肉芽肿病CYBB基因突变分析及产前诊断

The analysis CYBB gene mutation and prenatal diagnosis in X-linked chronic granulomatous disease

目的分析X连锁慢性肉芽肿病(X-CGD)的临床特征及CYBB基因突变。方法回顾分析1例X-CGD患儿的临床资料及其家系的CYBB基因检测结果。结果男性患儿,新生儿期起病,以反复严重的肺部感染为主要表现。患儿无刺激组及脂多糖(LPS)刺激组四唑氮蓝试验(NBT)均为0%,中性粒细胞氧化指数(NOI)为1.15。基因分析显示,患儿CYBB基因第6外显子出现缺失突变(579-582del ATTA),由此引起编码序列从189位异亮氨酸(I)发生移码突变,于212位氨基酸提前出现终止密码子(I 189 fs X 212)。患儿母亲及外祖母均为突变基因携带者。患儿母亲下一胎羊水细胞的CYBB基因未发现相同缺失突变。结论基因诊断1例CYBB基因突变X-CGD患者及其家系,产前基因检测可避免X-CGD患儿出生。

Objective To analyze the clinical feature of X-linked chronic granulomatous disease(X-CGD)and genemutation of CYBB.Method The clinical data of X-CGD in one child and the results of CYBB gene detection in his family werereviewed.Results This boy had onset in the neonatal period and presented with recurrent severe pulmonary infection as hismain manifestation.Results of nitroblue tetrazolium test(NBT)in both non-stimulation group and LPS stimulation group in thechild were0,and neutrophil oxidation index(NOI)was1.15.Gene analysis showed a deletion mutation in exon6of CYBB genein the child(579-582delATTA),which resulted in frameshift mutation started from coding sequence of189-isoleucine(I)andstop codon occured in advance in the212th amino acid(I189fsX212).Both the child's mother and grandmother were carriers ofthe mutated gene.The same deletion mutation was not found in the CYBB gene in the amniocyte from the mother's next child.Conclusion One case of X-CGD patient with CYBB gene mutation and his families were diagnosed by gene detection.Prenataldiagnosis can avoid the birth of children with X-CGD.