Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Cytogene Genetic Diagnostic Laboratory, Tabriz, Iran.
Amyotroph Lateral Scler Frontotemporal Degener. 2023 Feb;24(1-2):148-151. doi: 10.1080/21678421.2022.2100263. Epub 2022 Jul 19.
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 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 gene in a proband with the juvenile form of ALS. To our knowledge, this is the first identified mutation among the Iranian population.
肌萎缩侧索硬化症（ALS）是一种罕见的疾病，影响上下运动神经元。Alsin Rho 鸟嘌呤核苷酸交换因子（ALS2）的突变与三种类似但不同的综合征相关，包括青少年型 ALS。一个伊朗库尔德家庭参与了这项研究，所有成员都按照相关临床指南进行了评估。对所有家庭成员进行了外显子组测序和 Sanger 测序，以揭示可能的遗传因素。在 基因中发现了一个 c.2110 C>T（p.Arg704X）的替换。生物信息学分析表明该突变位于蛋白的高度保守和功能域。本研究在一个青少年型 ALS 患者中发现了 基因的一个新突变。据我们所知，这是在伊朗人群中首次发现的 突变。
