Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
| Autor: | Chio', Adriano, Restagno, G, Brunetti, Maura, Ossola, I, Calvo, Andrea, Mora, G, Sabatelli, M, Monsurrò, Mr, Battistini, S, Mandrioli, J, Salvi, F, Spataro, R, Schymick, J, Traynor, Bj, La Bella, V, Giannini, F, Ricci, C, Moglia, Cristina, Lombardo, F, Sbaiz, L, Cammarosano, Stefania, Tedeschi, G, Sola, P, Bartolomei, I, Marinou, K, Papetti, L, Conte, A, Luigetti, M, Paladino, P, Caponnetto, C, Siciliano, G. |
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| Přispěvatelé: | Chiò A, Restagno G, Brunetti M, Ossola I, Calvo, A, Mora, G, Sabatelli, M, Monsurrò, MR, Battistini, S, Mandrioli, J, Salvi, F, Spataro, R, Schymick, J, Traynor, BJ, La Bella, V, Chiò, A, Restagno, G, Brunetti, M, Ossola, I, Monsurro', Maria Rosaria, Traynor, Bj, LA BELLA, V, ITALSGEN CONSORTIUM: Giannini, F, Ricci, C, Moglia, C, Lombardo, F, Sbaiz, L, Cammarosano, S, Tedeschi, Gioacchino, Sola, P, Bartolomei, I, Marinou, K, Papetti, L, Conte, A, Luigetti, M, Paladino, P, Caponnetto, C, Siciliano, G. |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Aging amyotrophic lateral sclerosis Adolescent DNA Mutational Analysis Mutation Missense Biology Article Cohort Studies Exon Young Adult Degenerative disease medicine Missense mutation Humans Family genetics Amyotrophic lateral sclerosis Age of Onset Gene Aged Genetics General Neuroscience Middle Aged medicine.disease Phenotype Pedigree SLA - FUS mutation - genetics Italy Mutation Disease Progression RNA-Binding Protein FUS Female Settore MED/26 - Neurologia Neurology (clinical) Geriatrics and Gerontology Age of onset Missense Family pedigrees FUS gene Developmental Biology |
| Popis: | Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are located in exon 15 encoding the RNA-recognition motif, and result in a substitution of an arginine with a serine in position 514 (p.R514S) and substitution of a proline with a leucine at position 525 (p.P525L), respectively. Overall, the two mutations accounted for 3.8% of 52 non-SOD1 and non-TDP43 index cases of FALS. The clinical phenotype was similar within each of the families, with a predominantly upper limb onset in the family carrying the p.R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation. |
| Databáze: | OpenAIRE |
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