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Article

Characterization of C9orf72 haplotypes to evaluate the effects of normal and pathological variations on its expression and splicing.

PLoS genetics - 1 Mar 2021

Ben-Dor Israel, Pacut Crystal, Nevo Yuval, Feldman Eva L, Reubinoff Benjamin E

Abstract excerpt

Expansion of the hexanucleotide repeat (HR) in the first intron of the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in Caucasians. All C9orf72-ALS/FTD patients share a common risk (R) haplotype. To study C9orf72 expression and splicing from the mutant R allele compared to the complementary normal allele in ALS/FTD patients, we initially...

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PMID: 33780440
DOI: 10.1371/journal.pgen.1009445
PMCID: PMC8031855

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