A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis

A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis Publisher Pubmed

Daneshmandpour Y^{1, 2} ; Bahmanpour Z¹ ; Kazeminasab S¹ ; Aghaei Moghadam E³ ; Alehabib E⁴ ; Chapi M⁴ ; Tafakhori A⁵ ; Aghaei N⁶ ; Darvish H^{7, 8} ; Emamalizadeh B^{1, 2}

Show Affiliations

1. Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
2. Cytogene Genetic Diagnostic Laboratory, Tabriz, Iran
3. Department of Pediatrics, School of Medicine, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
4. Student Research Committee, Shahid Beheshti University of Medical Sciences, Tehran, Iran
5. Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran
6. Research Center of Psychiatry and Behavioral Sciences, Tabriz University of Medical Sciences, Tabriz, Iran
7. Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
8. Cancer Research Center, Semnan University of Medical Sciences, Semnan, Iran

Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Published:2023

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. © 2022 World Federation of Neurology on behalf of the Research Group on Motor Neuron Diseases.

2. Description of Combined Arhsp/Jals Phenotype in Some Patients With Spg11 Mutations, Molecular Genetics and Genomic Medicine (2020)

Experts (# of related papers)

Farzad Fatehi (1)

Shahriar Nafissi (1)

Style	Citing Format
MLA	Daneshmandpour Y, et al.. "A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis." Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, vol. 24, no. 1-2, 2023, pp. 148-151.
APA	Daneshmandpour Y, Bahmanpour Z, Kazeminasab S, Aghaei Moghadam E, Alehabib E, Chapi M, Tafakhori A, Aghaei N, Darvish H, Emamalizadeh B (2023). A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24(1-2), 148-151.
Chicago	Daneshmandpour Y, Bahmanpour Z, Kazeminasab S, Aghaei Moghadam E, Alehabib E, Chapi M, Tafakhori A, Aghaei N, Darvish H, Emamalizadeh B. "A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis." Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 24, no. 1-2 (2023): 148-151.
Harvard	Daneshmandpour Y et al. (2023) 'A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis', Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24(1-2), pp. 148-151.
Vancouver	Daneshmandpour Y, Bahmanpour Z, Kazeminasab S, Aghaei Moghadam E, Alehabib E, Chapi M, et al.. A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 2023;24(1-2):148-151.
BibTex	@article{ author = {Daneshmandpour Y and Bahmanpour Z and Kazeminasab S and Aghaei Moghadam E and Alehabib E and Chapi M and Tafakhori A and Aghaei N and Darvish H and Emamalizadeh B}, title = {A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis}, journal = {Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration}, volume = {24}, number = {1-2}, pages = {148-151}, year = {2023} }
RIS	TY - JOUR AU - Daneshmandpour Y AU - Bahmanpour Z AU - Kazeminasab S AU - Aghaei Moghadam E AU - Alehabib E AU - Chapi M AU - Tafakhori A AU - Aghaei N AU - Darvish H AU - Emamalizadeh B TI - A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis JO - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration VL - 24 IS - 1-2 SP - 148 EP - 151 PY - 2023 ER -

Science Communicator Platform

Authors

Authors Affiliations

Abstract