本文選題：Cockayne綜合征　切入點(diǎn)：臨床特征　出處：《臨床兒科雜志》2017年11期

【摘要】：目的探討Cockayne綜合征患兒的臨床、影像學(xué)和ERCC8基因突變特征。方法回顧分析1例經(jīng)基因檢測(cè)確診的Cockayne綜合征患兒的臨床和影像學(xué)資料,應(yīng)用目標(biāo)序列捕獲和第二代測(cè)序技術(shù)檢測(cè)患兒相關(guān)基因,采用Sanger測(cè)序驗(yàn)證突變位點(diǎn)的結(jié)果,并對(duì)其父母、姐姐樣本進(jìn)行突變位點(diǎn)的序列分析。結(jié)果女性患兒,7歲,主要臨床表現(xiàn)為精神運(yùn)動(dòng)發(fā)育遲滯、生長(zhǎng)發(fā)育障礙、特殊面容、光敏性皮炎、痙攣性癱瘓、小腦共濟(jì)失調(diào)。頭顱磁共振顯示雙側(cè)半卵圓中心、腦室旁白質(zhì)對(duì)稱脫髓鞘改變,小腦萎縮。二代測(cè)序結(jié)果顯示患兒ERCC8基因外顯子區(qū)域兩處雜合突變點(diǎn)c.397CT和c.394_398del,分別引起氨基酸變化p.Q133X和p.L132fs;Sanger測(cè)序結(jié)果顯示2個(gè)突變分別來源于母親和父親,為復(fù)合雜合突變。c.394_398del位點(diǎn)為已報(bào)道致病突變,c.397CT為首次報(bào)道。結(jié)論二代測(cè)序技術(shù)可準(zhǔn)確檢測(cè)Cockayne綜合征的ERCC8基因突變。首次發(fā)現(xiàn)c.397CT突變位點(diǎn),擴(kuò)大了中國(guó)Cockayne綜合征患者的基因突變譜。
[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.
【作者單位】： 陸軍總醫(yī)院附屬八一兒童醫(yī)院神經(jīng)發(fā)育科;新鄉(xiāng)醫(yī)學(xué)院第三附屬醫(yī)院兒科;
【分類號(hào)】：R725.9

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