Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes

Marina Picillo, Emilia Vitale, Antonella Rendina, Aldo Donizetti, Vincenza Aliperti, Maria Francesca Tepedino, Giovanna Dati, Monia Ginevrino, Enza Maria Valente, Paolo Barone

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)341-347
Number of pages6
JournalJournal of Alzheimer's disease : JAD
Volume76
Issue number1
DOIs
Publication statusPublished - May 26 2020

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    Picillo, M., Vitale, E., Rendina, A., Donizetti, A., Aliperti, V., Tepedino, M. F., Dati, G., Ginevrino, M., Valente, E. M., & Barone, P. (2020). Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes. Journal of Alzheimer's disease : JAD, 76(1), 341-347. https://doi.org/10.3233/JAD-200151