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Updated: Dec 20, 2025
Modified Yeast-Two-Hybrid System to Identify Proteins Interacting with the Growth Factor Progranulin
Published on: January 17, 2012
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes
Marina Picillo1, Emilia Vitale2, Antonella Rendina2
1Center for Neurodegenerative Diseases (CEMAND); Department of Medicine, Surgery and Dentistry, Neuroscience Section, University of Salerno, Italy.
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.
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