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Fused in sarcoma (FUS) or translocation in liposarcoma (TLS), a DNA/RNA-binding protein, causes a dominant autosomal inherited form of amyotrophic lateral sclerosis (ALS), ALS 6. Its main role in neurodegeneration is highlighted by the presence of cytoplasmic accumulation of its mutant protein form in ALS patients. To further define the frequency and spectrum of FUS gene mutations, we have performed a molecular screening of a cohort of 327 Italian patients from Southern Italy with sporadic ALS (SALS). We identified 4 patients carrying 3 different missense mutations and several polymorphisms. Two different substitutions occurring in the same amino acidic position have been observed in 2 patients: R521G and R521C respectively; P525L mutation has been found in 2 additional cases. Most of the patients with FUS mutations showed early symptom onset and had short disease survival. We also detected 4 different polymorphic variants (3'-untranslated region [UTR] variant, c.*41G>A; c.523+3ins[GAGGTG]; c.335-15del[TTTT]; and rs13331793) in 9 patients from within our cohort. This study underlines the importance of population-based mutation screening of newly identified genes.

Original publication

DOI

10.1016/j.neurobiolaging.2011.10.005

Type

Journal article

Journal

Neurobiol Aging

Publication Date

04/2012

Volume

33

Pages

837.e1 - 837.e5

Keywords

Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, DNA Mutational Analysis, Exons, Female, Genetic Predisposition to Disease, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Neurologic Examination, RNA-Binding Protein FUS