第二代测序技术诊断球形细胞脑白质营养不良1例报告

发布时间：2018-05-16 10:22

本文选题：球形细胞脑白质营养不良 + Krabbe病　；参考：《临床儿科杂志》2017年08期

【摘要】：目的探讨球形细胞脑白质营养不良(Krabbe病)的临床、影像学和GALC基因突变特征。方法回顾分析1例经基因检测确诊的Krabbe病患儿的临床和影像学资料,并应用目标序列捕获和第二代测序技术检测相关基因,采用Sanger测序验证突变位点,并对其父母样本进行突变位点的序列分析。结果患儿男,3岁5个月,为晚发婴儿型,主要临床表现为精神运动发育倒退、抽搐。头颅MRI显示双侧脑室后角旁白质、胼胝体压部、内囊后肢对称性长T1长T2信号。二代测序结果显示患儿GALC基因第15外显子1个杂合突变c.1832TC和第9外显子1个杂合突变c.979TG,分别引起氨基酸变化p.L611S和p.F327V,为复合杂合突变。Sanger测序结果显示2个突变分别来源于母亲和父亲,c.1832TC已有报道,c.979TG为首次报道。结论通过二代测序技术可以准确检测出Krabbe病的GALC基因突变,可协助临床诊断与鉴别。
[Abstract]:Objective to investigate the clinical, imaging and GALC gene mutation characteristics of globular leukodystrophy (Krabbe disease). Methods the clinical and imaging data of a child with Krabbe's disease confirmed by gene detection were retrospectively analyzed. The related genes were detected by target sequence capture and second generation sequencing. The mutation sites were verified by Sanger sequencing. The mutation sites of parents were sequenced. Results the children were 3 years old and 5 months old. The main clinical manifestations were psychomotor retrogression and convulsion. MRI showed long T 1 and long T 2 signal intensity in the white matter, corpus callosum, and the posterior limb of the internal capsule. The second generation sequencing results showed that one heterozygous mutation c.1832TC and one heterozygous mutation c.979TGin exon 15 and exon 9 of GALC gene in children with GALC caused amino acid changes p.L611S and p.F327V, respectively. It has been reported from mother and father of C. 1832TC for the first time. Conclusion the mutation of GALC gene in Krabbe's disease can be detected accurately by the second generation sequencing technique, which can be helpful for clinical diagnosis and differential diagnosis.
【作者单位】：陆军总医院附属八一儿童医院;
【分类号】：R725.9

【相似文献】