超氧化物歧化酶1（SOD1）基因中一个与缓慢进展性肌萎缩侧索硬化症相关的新型外显子3突变（D76V）。
A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS.
作者信息
Segovia-Silvestre Toni, Andreu Antonio L, Vives-Bauza Cristofol, Garcia-Arumi Elena, Cervera Carlos, Gamez Josep
机构信息
Centre d'Investigacions en Bioquímica i Biologia Molecular, Hospital Gral, Universitari Vall d'Hebron, Barcelona, Spain.
出版信息
Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Jun;3(2):69-74. doi: 10.1080/146608202760196039.
INTRODUCTION
Details of the mutations in the Cu/Zn superoxide dismutase (SOD1) gene in patients with the familial form of amyotrophic lateral sclerosis are currently being gathered in order better to understand the genotype-phenotype relationship in this disorder. We report on a large family with 15 affected individuals spanning five generations.
RESULTS
A novel mutation in the exon 3 of the SOD1 gene, an A-to-T transversion at nucleotide position 696 in the heterozygous state leading to a D76V amino acid change, was identified in four family members. Affected individuals showed a homogeneous phenotype, characterized by initial symptoms in the lower limbs, clinical onset in the fifth decade of life, long survival and high penetrance.
DISCUSSION
Our results are discussed in relation to the previously reported exon 3 SOD1 mutations, paying particular attention to the phenotypic characteristics of ALS-SOD1 patients.
引言
目前正在收集家族性肌萎缩侧索硬化症患者铜/锌超氧化物歧化酶（SOD1）基因突变的详细信息，以便更好地了解这种疾病的基因型与表型关系。我们报告了一个有15名受累个体、跨越五代的大家庭。
结果
在四名家庭成员中发现了SOD1基因外显子3中的一个新突变，杂合状态下核苷酸位置696处的A到T颠换，导致氨基酸D76V改变。受累个体表现出一致的表型，其特征为下肢出现初始症状、临床发病于生命的第五个十年、生存期长且外显率高。
讨论
我们的结果与先前报道的外显子3 SOD1突变相关进行了讨论，特别关注了ALS-SOD1患者的表型特征。
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