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首页> 外文期刊>Balkan journal of medical genetics: BJMG >A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient
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A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient

机译：MLC1基因的一种新的剪接现场突变，导致外显子9跳跃和颌骨白血病与土耳其患者的皮下囊肿

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Megalencephalic leukoencephalopathy (MLC) with subcortical cysts, also known as Van der Knaap disease (MIM #604004) is an autosomal recessive neurological disorder characterized by early onset macrocephaly, epilepsy, neurological deterioration with cerebellar ataxia and spasticity. An 8-month-old boy was admitted to our pediatric neurology clinic with macrocephaly. His brain magnetic resonance imaging (MRI) revealed bilateral, diffuse, symmetric structural white matter abnormalities, relatively sparing the cerebellum and bilateral subcortical temporal cysts. The diagnosis of Van der Knaap disease was suspected based on the clinical features and imaging findings and the genetic analysis revealed a novel homozygous c.768+2TC mutation of the MLC1 gene. For determination of the novel splice-site mutationa??s effect, cDNA amplification was performed. cDNA analysis showed that the splice-site c.768+2TC mutation gave rise to exon 9 skipping.
机译：颌骨白血病（MLC）具有皮质囊肿，也称为van der Knaap疾病（MIM＃604004）是一种常染色体隐性神经系统疾病，其特征，其特征在于早期发病，癫痫，具有小脑共济失障和痉挛的癫痫，神经劣化。一个8个月大的男孩患有宏观麦畸形的儿科神经病学诊所。他的脑磁共振成像（MRI）揭示了双侧，弥漫性，对称的结构白体异常，相对备受小脑和双侧临床颞囊肿。基于临床特征和成像发现，怀疑van der Knaap疾病的诊断，遗传分析显示了MLC1基因的新型纯合C.768 + 2T> C突变。为了测定新型接头 - 位点均突变的效果，进行cDNA扩增。 cDNA分析表明，剪接部位C.768 + 2T> C突变产生外显子9跳跃。

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