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Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.


ABSTRACT: Expansions of the noncoding GGGGCC hexanucleotide repeat in the Chromosome 9 open reading frame 72 (C9ORF72) gene cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In this study we aimed to determine whether the length of the normal-unexpanded-allele of the GGGGCC repeat in C9ORF72 plays a role in the presentation of disease or affects age at onset in C9ORF72 mutation carriers. We also studied whether the GGGGCC repeat length confers risk or affects age at onset in FTD and ALS patients without C9ORF72 repeat expansions. C9ORF72 genotyping was performed in 580 FTD, 995 ALS, and 160 FTD-ALS patients, and 1444 controls, leading to the identification of 211 patients with pathogenic C9ORF72 repeat expansions. No meaningful association between the repeat length of the normal alleles of the GGGGCC repeat in C9ORF72 and disease phenotype or age at onset was observed in C9ORF72 mutation carriers or nonmutation carriers.

SUBMITTER: Rutherford NJ 

PROVIDER: S-EPMC3617405 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature

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Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.

Rutherford Nicola J NJ   Heckman Michael G MG   Dejesus-Hernandez Mariely M   Baker Matt C MC   Soto-Ortolaza Alexandra I AI   Rayaprolu Sruti S   Stewart Heather H   Finger Elizabeth E   Volkening Kathryn K   Seeley William W WW   Hatanpaa Kimmo J KJ   Lomen-Hoerth Catherine C   Kertesz Andrew A   Bigio Eileen H EH   Lippa Carol C   Knopman David S DS   Kretzschmar Hans A HA   Neumann Manuela M   Caselli Richard J RJ   White Charles L CL   Mackenzie Ian R IR   Petersen Ronald C RC   Strong Michael J MJ   Miller Bruce L BL   Boeve Bradley F BF   Uitti Ryan J RJ   Boylan Kevin B KB   Wszolek Zbigniew K ZK   Graff-Radford Neill R NR   Dickson Dennis W DW   Ross Owen A OA   Rademakers Rosa R  

Neurobiology of aging 20120726 12


Expansions of the noncoding GGGGCC hexanucleotide repeat in the Chromosome 9 open reading frame 72 (C9ORF72) gene cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In this study we aimed to determine whether the length of the normal-unexpanded-allele of the GGGGCC repeat in C9ORF72 plays a role in the presentation of disease or affects age at onset in C9ORF72 mutation carriers. We also studied whether the GGGGCC repeat length confers risk or affects age at onset in FTD  ...[more]

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