A novel D90_K91insN mutation in exon 4 of the SOD1 gene caused familial amyotrophic lateral sclerosis in a Chinese pedigree. Issue 7 (2nd October 2018)

• Record Type: Journal Article
• Authors: Li, Yanran; Sun, Bo; Chen, Siyu; Ren, Yuting; Cui, Fang; Yang, Fei; Chen, Zhaohui; Ling, Li; Huang, Xusheng
• Is Part Of: Amyotrophic lateral sclerosis and frontotemporal degeneration. Volume 19:Issue 7/8(2018)
• Page Start: 516
• Page End: 521
• Publication Date: 2018-10-02
• Subjects: Familial amyotrophic lateral sclerosis -- SOD1 -- duplication mutation; 616.839
• DOI: 10.1080/21678421.2018.1457057
• Languages: English
• ISSNs: 2167-8421

Abstract

Abstract: We reported a novel heterozygous duplication mutation (c.272_274dupACA, D90_K91insN) in exon 4 of the SOD1 gene in a Chinese pedigree. This pedigree demonstrates an autosomal dominant pattern of inheritance, with potentially reduced penetrance. The clinical phenotype was rather uniform with a distal lower extremity onset, predominant involvement of lower motor neurons (LMNs), and a relatively short survival time (mean 2.6 years) compared with other mutations in the loop V structure of SOD1. We also detected that the average SOD1 activity in D90_K91insN mutation carriers is 68.5% of wild-type controls. In conclusion, we identified the first non-frameshift duplication mutation in loop V of the human SOD1 in the Chinese population, suggesting the importance of the loop V structure in the pathogenicity of FALS.