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Article type: Research Article
Authors: Picillo, Marinaa | Vitale, Emiliab; *; 1 | Rendina, Antonellab | Donizetti, Aldoc | Aliperti, Vincenzac | Tepedino, Maria Francescaa | Dati, Giovannaa | Ginevrino, Moniad | Valente, Enza Mariae; f | Barone, Paoloa
Affiliations: [a] Center for Neurodegenerative Diseases (CEMAND); Department of Medicine, Surgery and Dentistry, Neuroscience Section, University of Salerno, Italy | [b] Institute of Biochemistry and Cell Biology (IBBC), CNR, Naples, Italy | [c] Department of Biology, University of Naples Federico II, Naples, Italy | [d] Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Roma, Italia | [e] Department of Molecular Medicine, University of Pavia, Pavia, Italy | [f] IRCCS Mondino Foundation, Pavia, Italy
Correspondence: [*] Correspondence to: Emilia Vitale, PhD, Institute of Biochemistry and Cell Biology (IBBC), CNR, Naples, Italy. Tel.: +39 081 6132 218; Fax: +39 081 6132 277; E-mail: [email protected].
Note: [1] Responsible for the DEMENTIA-BIOBANK.
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.
Keywords: Dementia, gene, genetics, parkinsonism, progranulin, progressive supranuclear palsy
DOI: 10.3233/JAD-200151
Journal: Journal of Alzheimer's Disease, vol. 76, no. 1, pp. 341-347, 2020
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