| Title: |
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes. |
| Authors: |
Picillo, Marina1 (AUTHOR), Vitale, Emilia2 (AUTHOR) emilia.vitale@cnr.it, Rendina, Antonella2 (AUTHOR), Donizetti, Aldo3 (AUTHOR), Aliperti, Vincenza3 (AUTHOR), Tepedino, Maria Francesca1 (AUTHOR), Dati, Giovanna1 (AUTHOR), Ginevrino, Monia4 (AUTHOR), Valente, Enza Maria5,6 (AUTHOR), Barone, Paolo1 (AUTHOR) |
| Source: |
Journal of Alzheimer's Disease. 2020, Vol. 76 Issue 1, p341-347. 7p. |
| Subject Terms: |
*FRONTOTEMPORAL lobar degeneration, *PROGRANULIN, *PROGRESSIVE supranuclear palsy, *FRONTOTEMPORAL dementia, *GENETIC mutation, *PHENOTYPES, *GENE expression, *RESEARCH, *RESEARCH methodology, *MEDICAL cooperation, *EVALUATION research, *COMPARATIVE studies, *GENETIC techniques, *GENEALOGY |
| Abstract: |
Background: Mutations in the GRN gene are causative for an autosomal dominant form of frontotemporal dementia.Objective/methods: The objective of the present study is to describe clinical and molecular features of three siblings harboring the GRN deletion NM_002087.3:c.295_308delTGCCCACGGGGCTT, p.(Cys99Profs*15) identified with next generation sequencing.Results: Our patients demonstrated heterogeneous clinical phenotypes, such as progressive supranuclear palsy-like in the proband and the behavioral variant of frontotemporal dementia in the two affected siblings. Progranulin haploinsufficiency was revealed by both gene expression and protein analyses.Conclusion: The pathogenicity of the novel GRN deletion c.295_308del TGCCCACGGGGCTT is confirmed by both functional analysis and segregation in three affected siblings. [ABSTRACT FROM AUTHOR] |
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| Database: |
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