Cargando…

Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data

BACKGROUND: Several European studies examined the role of C9orf72 repeat expansion in patients with Huntington-disease like phenotypes (HD-L). The scope of our study is to investigate the expansion frequency in a Greek HD-L cohort and the meta-analysis of all published cases. This will be of use in...

Descripción completa

Detalles Bibliográficos
Autores principales: Rikos, Dimitrios, Marogianni, Chrysoula, Provatas, Antonios, Bourinaris, Thomas, Arnaoutoglou, Marianthi, Stathis, Pantelis, Patrinos, George P., Dardiotis, Efthimios, Hadjigeorgiou, George M., Xiromerisiou, Georgia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394208/
https://www.ncbi.nlm.nih.gov/pubmed/32775019
http://dx.doi.org/10.5334/tohm.61
Descripción
Sumario:BACKGROUND: Several European studies examined the role of C9orf72 repeat expansion in patients with Huntington-disease like phenotypes (HD-L). The scope of our study is to investigate the expansion frequency in a Greek HD-L cohort and the meta-analysis of all published cases. This will be of use in genetic counseling of these cases. METHODS: A cohort of 74 patients with HD-L and 67 healthy controls were screened for the C9orf72 expansion status. Case-controls comparison was assessed with the Pearson’s chi-square statistic for a 2 × 2 table. A systematic database search was conducted and seven studies, including the current study, were considered eligible for inclusion in a meta-analysis considering a total of 812 patients with HD phenocopies. Pooled mutation frequency was calculated using a Random Effects model or the Mantel-Haezsel fixed effects model, depending on the observed heterogeneity. RESULTS: In our cohort, one patient was found to have a pathologic expansion of C9orf72, and none from the control group (chi-square: 0.91, p-value: 0.34). Pooled mutation frequency was found at 2% (CI: 1–3%) with low heterogeneity (I(2):15%). DISCUSSION: Based on this meta-analysis the recommendation for genetic testing for C9orf72 expansions is further solidified.