Cockayne综合征1例临床及ERCC8基因突变特征

发布时间：2018-03-25 12:24

本文选题：Cockayne综合征　切入点：临床特征　出处：《临床儿科杂志》2017年11期

【摘要】：目的探讨Cockayne综合征患儿的临床、影像学和ERCC8基因突变特征。方法回顾分析1例经基因检测确诊的Cockayne综合征患儿的临床和影像学资料,应用目标序列捕获和第二代测序技术检测患儿相关基因,采用Sanger测序验证突变位点的结果,并对其父母、姐姐样本进行突变位点的序列分析。结果女性患儿,7岁,主要临床表现为精神运动发育迟滞、生长发育障碍、特殊面容、光敏性皮炎、痉挛性瘫痪、小脑共济失调。头颅磁共振显示双侧半卵圆中心、脑室旁白质对称脱髓鞘改变,小脑萎缩。二代测序结果显示患儿ERCC8基因外显子区域两处杂合突变点c.397CT和c.394_398del,分别引起氨基酸变化p.Q133X和p.L132fs;Sanger测序结果显示2个突变分别来源于母亲和父亲,为复合杂合突变。c.394_398del位点为已报道致病突变,c.397CT为首次报道。结论二代测序技术可准确检测Cockayne综合征的ERCC8基因突变。首次发现c.397CT突变位点,扩大了中国Cockayne综合征患者的基因突变谱。
[Abstract]:Objective to investigate the clinical, imaging and ERCC8 gene mutations in children with Cockayne syndrome. Target sequence capture and second generation sequencing were used to detect the related genes in children. Sanger sequencing was used to verify the results of mutation loci, and the parents and sister samples were sequenced. Results the female children were 7 years old. The main clinical manifestations were psychomotor retardation, growth disorder, special facial appearance, Guang Min dermatitis, spastic paralysis, cerebellar ataxia. Cerebellar atrophy. Two heterozygous mutations in the exon region of ERCC8 gene, c.397CT and c. 394398del. were sequenced to cause amino acid changes, p.Q133X and p. L132fsSanger sequencing showed that the two mutations originated from mother and father, respectively. Conclusion the second generation sequencing technique can accurately detect the mutation of ERCC8 gene in Cockayne syndrome. It is the first time to find the mutation site of c.397CT, which expands the gene mutation spectrum of Cockayne syndrome patients in China.
【作者单位】：陆军总医院附属八一儿童医院神经发育科;新乡医学院第三附属医院儿科;
【分类号】：R725.9

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