一个隐性肌萎缩侧索硬化症家族中的复合杂合D90A和D96N超氧化物歧化酶1基因突变

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.

作者信息

Hand C K, Mayeux-Portas V, Khoris J, Briolotti V, Clavelou P, Camu W, Rouleau G A

机构信息

Centre for Research in Neuroscience, McGill University, Montréal General Hospital Research Institute, Quebec, Canada.

出版信息

Ann Neurol. 2001 Feb;49(2):267-71. doi: 10.1002/1531-8249(20010201)49:2<267::aid-ana51>3.0.co;2-d.

DOI:10.1002/1531-8249(20010201)49:2<267::aid-ana51>3.0.co;2-d

PMID:11220750

Abstract

We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation has been well described and clearly shown to cause recessive ALS. In this family, affected individuals are heterozygous for the D90A mutation and also carry a single copy of a novel SOD1 mutation, D96N. We propose that in this family both mutations are required for the development of disease.

摘要

我们描述了一个患有肌萎缩侧索硬化症（ALS）的法国家庭，其铜/锌超氧化物歧化酶（SOD1）基因存在两种不同的突变。D90A突变已被充分描述，并且明确显示会导致隐性ALS。在这个家庭中，受影响的个体为D90A突变的杂合子，同时还携带一个新的SOD1突变D96N的单拷贝。我们认为在这个家庭中，两种突变都是疾病发生所必需的。