A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis. Issue 1 (2nd January 2023)

• Record Type: Journal Article
• Authors: Daneshmandpour, Yousef; Bahmanpour, Zahra; Kazeminasab, Somayeh; Aghaei Moghadam, Ehsan; Alehabib, Elham; Chapi, Marjan; Tafakhori, Abbas; Aghaei, Negar; Darvish, Hossein; Emamalizadeh, Babak
• Is Part Of: Amyotrophic lateral sclerosis and frontotemporal degeneration. Volume 24:Issue 1/2(2023)
• Page Start: 148
• Page End: 151
• Publication Date: 2023-01-02
• Subjects: Amyotrophic lateral sclerosis -- ALS2 -- whole-exome sequencing -- bioinformatics; 616.839
• DOI: 10.1080/21678421.2022.2100263
• Languages: English
• ISSNs: 2167-8421

Abstract

Abstract: Amyotrophic lateral sclerosis (ALS) is a rare disorder that affects both upper and lower motor neurons. Mutations in Alsin Rho Guanine Nucleotide Exchange Factor (ALS2) correlates with three similar but distinctive syndromes, including the juvenile form of ALS. An Iranian Kurdish family was involved in this study and all members were evaluated with relevant clinical guidelines. Whole exome sequencing and sanger sequencing were applied to all family members to undermine the possible genetic factors. A substitution c. 2110 C>T (p. Arg704X) identified in the ALS2 gene. Bioinformatics analysis indicated the mutation is located in the well-conserved and functional domain of the protein. This study recognized a novel mutation in the ALS2 gene in a proband with the juvenile form of ALS. To our knowledge, this is the first identified ALS2 mutation among the Iranian population.