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首页> 外文期刊>Iranian journal of public health. >Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients
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Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients

机译：Sandhoff疾病的新型突变：在伊朗婴儿患者队列中的分子分析。

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BackgroundSandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency and accumulation of GM2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles. Pathogenic mutations in HEXB gene were observed which leads to enzyme activity reduction and interruption of normal metabolic cycle of GM2 ganglioside in sandhoff patients.Methods:Six infantile index patients with typical biochemical and clinical picture of the disease were studied at the molecular level. After DNA extraction and amplification, probands and their parents, were evaluated by direct sequencing of amplicons.Results:We identified 7 different mutations among which 4 were novel. The most prevalent finding (50%) among our population was a 16 kb deletion including the promoter and exons 1–5. The other findings included c.1552delG and c.410G>A, c.362 A>G, c.550delT, c.1597C>T, c.1752delTG.Conclusion:We conclude that Cys137Tyr and R533C mutations may be pathogenic because of changing amino acid and locating at the conserved region and also they have not been observed in hundred controls. Besides, four mutations including: Cys137Tyr, c.1552delG, c.1597C>T and c.550delT fulfilled almost criteria for pathogenic mutation.
机译：背景Sandhoff病是一种由β-己糖胺酶缺乏症和GM2神经节苷脂蓄积引起的常染色体隐性遗传疾病，导致进行性运动神经元表现以及因呼吸衰竭和婴儿感染而死亡。观察HEXB基因的致病性突变，导致Sandhoff患者GM2神经节苷脂酶活性降低和正常代谢周期中断。方法：从分子水平研究了6例具有典型生化和临床症状的婴儿期患者。 DNA提取和扩增后，先证者及其亲本通过扩增子的直接测序进行评估。结果：我们鉴定了7个不同的突变，其中4个是新颖的。在我们的人群中，最普遍的发现是50 kb的缺失，包括启动子和1-5外显子。其他发现包括c.1552delG和c.410G> A，c.362 A> G，c.550delT，c.1597C> T，c.1752delTG。结论：我们得出结论，Cys137Tyr和R533C突变可能是致病的，因为其变化氨基酸和位于保守区域，而且在100个对照中也未观察到它们。此外，Cys137Tyr，c.1552delG，c.1597C> T和c.550delT这四个突变几乎满足了致病突变的标准。

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