本文選題：球形細胞腦白質(zhì)營養(yǎng)不良 + Krabbe病��； 參考：《臨床兒科雜志》2017年08期

【摘要】：目的探討球形細胞腦白質(zhì)營養(yǎng)不良(Krabbe病)的臨床、影像學和GALC基因突變特征。方法回顧分析1例經(jīng)基因檢測確診的Krabbe病患兒的臨床和影像學資料,并應用目標序列捕獲和第二代測序技術檢測相關基因,采用Sanger測序驗證突變位點,并對其父母樣本進行突變位點的序列分析。結果患兒男,3歲5個月,為晚發(fā)嬰兒型,主要臨床表現(xiàn)為精神運動發(fā)育倒退、抽搐。頭顱MRI顯示雙側(cè)腦室后角旁白質(zhì)、胼胝體壓部、內(nèi)囊后肢對稱性長T1長T2信號。二代測序結果顯示患兒GALC基因第15外顯子1個雜合突變c.1832TC和第9外顯子1個雜合突變c.979TG,分別引起氨基酸變化p.L611S和p.F327V,為復合雜合突變。Sanger測序結果顯示2個突變分別來源于母親和父親,c.1832TC已有報道,c.979TG為首次報道。結論通過二代測序技術可以準確檢測出Krabbe病的GALC基因突變,可協(xié)助臨床診斷與鑒別。
[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.
【作者單位】： 陸軍總醫(yī)院附屬八一兒童醫(yī)院;
【分類號】：R725.9

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