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首页> 外文期刊>Vojnosanitetski Pregled >Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene
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Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene

机译：SMN1基因外显子7纯合缺失的脊髓性肌萎缩症患者SMN2基因拷贝数与临床特征的关系

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Background/Aim. Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of alpha motor neurons in the spinal cord and the medulla oblongata, causing progressive muscle weakness and atrophy. The aim of this study was to determine association between the SMN2 gene copy number and disease phenotype in Serbian patients with SMA with homozygous deletion of exon 7 of the SMN1 gene. Methods. The patients were identified using regional Serbian hospital databases. Investigated clinical characteristics of the disease were: patients’ gender, age at disease onset, achieved and current developmental milestones, disease duration, current age, and the presence of the spinal deformities and joint contractures. The number of SMN1 and SMN2 gene copies was determined using real-time polymerase chain reaction (PCR). Results. Among 43 identified patients, 37 (86.0%) showed homozygous deletion of SMN1 exon 7. One (2.7%) of 37 patients had SMA type I with 3 SMN2 copies, 11 (29.7%) patients had SMA type II with 3.1 ± 0.7 copies, 17 (45.9%) patients had SMA type III with 3.7 ± 0.9 copies, while 8 (21.6%) patients had SMA type IV with 4.2 ± 0.9 copies. There was a progressive increase in the SMN2 gene copy number from type II towards type IV (p < 0.05). A higher SMN2 gene copy number was associated with better current motor performance (p < 0.05). Conclusion. In the Serbian patients with SMA, a higher SMN2 gene copy number correlated with less severe disease phenotype. A possible effect of other phenotype modifiers should not be neglected.
机译：背景/目标。脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传疾病，其特征在于脊髓和延髓中的α运动神经元变性，导致进行性肌无力和萎缩。这项研究的目的是确定SMN2基因外显子7纯合缺失的塞尔维亚SMA患者的SMN2基因拷贝数与疾病表型之间的关联。方法。使用区域塞尔维亚医院数据库识别患者。该疾病的临床特征包括：患者的性别，发病年龄，已达到和目前的发展里程碑，疾病持续时间，当前年龄以及脊柱畸形和关节挛缩的存在。使用实时聚合酶链反应（PCR）确定SMN1和SMN2基因拷贝数。结果。在43例确定的患者中，有37名（86.0％）表现出SMN1外显子7的纯合缺失。37名患者中的1名（2.7％）患有I型SMA，具有3个SMN2拷贝; 11名（29.7％）患者，具有II型SMA，具有3.1±0.7拷贝，其中17例（45.9％）的SMA III型为3.7±0.9份，而8例（21.6％）的SMA IV型为4.2±0.9份。从II型向IV型的SMN2基因拷贝数逐渐增加（p <0.05）。较高的SMN2基因拷贝数与更好的当前运动表现有关（p <0.05）。结论。在塞尔维亚SMA患者中，较高的SMN2基因拷贝数与较低的严重疾病表型相关。其他表型修饰符的可能作用不容忽视。

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