CLN5基因复合杂合突变致青少年型神经元腊样脂褐质沉积症的临床特征及基因分析

发布时间：2018-03-28 07:04

本文选题：青少年型神经元腊样脂褐质沉积症　切入点：CLN基因　出处：《国际神经病学神经外科学杂志》2017年02期

【摘要】：目的报道及分析CLN5基因复合杂合突变致青少年型神经元腊样脂褐质沉积症(JNCL)患者的临床特征和基因突变类型。方法观察分析1例JNCL病人的临床表现、影像学、脑电图改变,进行全外显子组基因测序,并对其家庭成员进行相关基因检测和临床检查。结果患者于6岁开始视力减退及智力倒退,9岁出现肌阵挛发作、行走不稳。头颅MRI显示小脑明显萎缩,大脑皮质和脑干轻度萎缩。视频脑电图显示弥漫性2.5~3.5 Hz慢活动及颞区尖波。全外显子测序发现患者CLN5等位基因上1个来源于父亲的错义突变:exon2 c.376TC,以及1个来源于母亲的无义突变:exon3 c.595 CT。患儿父亲及弟弟均有c.376 TC突变,两人体查均发现水平性及旋转性眼震,该位点突变目前尚未见报道。结论 CLN5基因c.376TC和c.595CT的复合杂合突变可以引起JNCL临床症状、影像学和脑电图改变。对于NCL可疑病例应该对患者及家族成员及早进行相关基因测序明确其基因型,并实施生育指导。
[Abstract]:Objective to report and analyze the clinical features and gene mutation types of juvenile neuronal cerulolipofuscin syndrome (JNCLs) caused by CLN5 gene heterozygosity mutation. Methods the clinical manifestation, imaging and electroencephalogram (EEG) of one patient with JNCL were observed and analyzed. All exon group genes were sequenced, and their family members were tested and clinically examined. Results the patients began to have myoclonic seizures at the age of 6 and their mental retardation at the age of 9. Unsteady walking. Cranial MRI showed apparent cerebellar atrophy, Mild atrophy of cerebral cortex and brainstem. Video EEG showed diffuse 2.5 ~ 3.5Hz slow activity and temporal apical wave. The total exon sequencing revealed that one of the CLN5 alleles was derived from the father's missense mutation: exon2 c. 376TC, and one was derived from a missense mutation in the temporal region. The father and younger brother of the child both had c 376 TC mutation, and the mother had a missense mutation of 10% exon 3 c. 595 CT.The child's father and brother both had c 376 TC mutation. Horizontal and rotational nystagmus were found in both human bodies. The mutation of this locus has not been reported. Conclusion the compound heterozygosity mutation of CLN5 gene c.376TC and c.595CT can cause clinical symptoms of JNCL. Imaging and EEG changes. Patients and family members should be sequenced as early as possible to identify their genotypes and fertility guidance in suspicious cases of NCL.
【作者单位】：广州医科大学附属第二医院神经内科;
【分类号】：R741

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