Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report

Frontiers in Genetics

Genetics

Hilmi Uysal¹  Elif Bayraktar²  A. Nazlı Başak²  Vildan Çiftçi³ 

[1]Department of Neurology, Faculty of Medicine, Akdeniz University, Antalya, Türkiye

[2]Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Türkiye

[3]Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Türkiye

[4]Department of Medical Biology and Genetics, Akdeniz University, Antalya, Türkiye

关键词: fALS;    sALS;    SOD1;    de novo;    His47Arg;   

DOI  :  10.3389/fgene.2023.1208673

 received in 2023-04-26, accepted in 2023-07-27,  发布年份 2023

来源: Frontiers

【 摘 要 】

Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease of motor neurons. Most ALS cases are considered sporadic due to the presence of a combination of environmental and complex genetic risk factors, while approximately 10% of cases have a family history. Pathogenic variants in the SOD1 gene are the second most frequent causative factor of genetics-based ALS worldwide, after C9ORF72 hexanucleotide repeat expansion. The De novo occurrence of pathogenic mutations in ALS-associated genes and its effect on disease progression have been studied previously, especially in the FUS gene. Recent studies have shown that a very small portion of SOD1 cases occurred de novo. Here, we present the first de novo case of the SOD1 His47Arg mutation in a young female patient with mild symptoms and, currently, a slow progression for 7 years.

【 授权许可】

Unknown   
Copyright © 2023 Bayraktar, Çiftçi, Uysal and Başak.