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Artículo

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

Ghani, Mahdi; Lang, Anthony E.; Zinman, Lorne; Nacmias, Benedetta; Sorbi, Sandro; Bessi, Valentina; Tedde, Andrea; Tartaglia, Maria Carmela; Surace, Ezequiel IgnacioIcon ; Sato, Christine; Moreno, Danielle; Xi, Zhengrui; Hung, Rachel; Nalls, Mike A.; Singleton, Andrew; George Hyslop, Peter St.; Savchenko, Ekaterina
Fecha de publicación: 01/2015
Editorial: Elsevier Science Inc
Revista: Neurobiology of Aging
ISSN: 0197-4580
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:
Genética Humana

Resumen

Genetic analyses of patients with neurodegenerative disorders have identified multiple genes that need to be investigated for the presence of damaging variants. However, mutation analysis by Sanger sequencing is costly and time consuming. We tested the utility of a recently designed semi-custom genome-wide array (NeuroX; Illumina, Inc) tailored to study neurodegenerative diseases (e.g., mutation screening). We investigated 192 patients with 4 different neurodegenerative disorders for the presence of rare damaging variations in 77 genes implicated in these diseases. Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M233T responsible for Alzheimer's disease in a large Italian family, as well as SOD1 p.A4V and p.I113T in patients with amyotrophic lateral sclerosis. In total, we identified 78 potentially damaging rare variants (frequency <1%), including ABCA7 p.L400V in a family with Alzheimer's disease and LRRK2 p.R1514Q in 6 of 98 patients with Parkinson's disease (6.1%). In conclusion, NeuroX appears to be helpful for rapid and accurate mutation screening, although further development may be still required to improve some current caveats.
Palabras clave: MUTATION , NEURODEGENERATIVE DISORDER , NEUROX
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Atribución-NoComercial-SinDerivadas 2.5 Argentina (CC BY-NC-ND 2.5 AR)
Identificadores
URI: http://hdl.handle.net/11336/85292
DOI: http://dx.doi.org/10.1016/j.neurobiolaging.2014.07.038
URL: https://www.sciencedirect.com/science/article/pii/S0197458014005077
URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4268030/
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Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Citación
Ghani, Mahdi; Lang, Anthony E.; Zinman, Lorne; Nacmias, Benedetta; Sorbi, Sandro; et al.; Mutation analysis of patients with neurodegenerative disorders using NeuroX array; Elsevier Science Inc; Neurobiology of Aging; 36; 1; 1-2015; 545.e9-545.e14
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