Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients.

ABSTRACT: The p.D91A is one of the most common ALS-causing SOD1 mutations and is known to be either recessive or dominant. The homozygous phenotype is characterized by prolonged survival and slow progression of disease, whereas the affected heterozygous phenotypes can vary. To date, no genetic protective factors located close to SOD1 have been associated with the mild progressive homozygous phenotype. Using Next Generation Sequencing (NGS), we characterized a small cohort of sporadic and familial p.D91A-SOD1 heterozygous (n = 2) or homozygous (n = 5) ALS patients, to reveal any additional contributing variant in 39 ALS-related genes. We detected unique sets of non-synonymous variants, four of which were of uncertain significance and several in untranslated regions

SUBMITTER: Gentile G 

PROVIDER: S-EPMC8701978 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature