title: Progranulin mutations in Dutch familial frontotemporal lobar degeneration.
abstract: Mutations in the progranulin (PGRN) gene have recently been identified in frontotemporal lobar degeneration with ubiquitin inclusions linked to chromosome 17q21. We report here the finding of two novel frameshift mutations and three possible pathogenic missense mutations in the PGRN gene. Furthermore, we determined the frequency of PGRN mutations in familial cases recruited from a large population-based study of frontotemporal lobar degeneration carried out in The Netherlands.
authors.affiliation: Department of Human Genetics, Section Medical Genomics, VU University Medical Center and VU University, Amsterdam, The Netherlands.
authors.forename: Iraad F
authors.initials: IF
authors.lastname: Bronner
authors.forename: Patrizia
authors.initials: P
authors.lastname: Rizzu
authors.forename: Harro
authors.initials: H
authors.lastname: Seelaar
authors.forename: Saskia E
authors.initials: SE
authors.lastname: van Mil
authors.forename: Burcu
authors.initials: B
authors.lastname: Anar
authors.forename: Asma
authors.initials: A
authors.lastname: Azmani
authors.forename: Laura
authors.initials: L
authors.lastname: Donker Kaat
authors.forename: Sonia
authors.initials: S
authors.lastname: Rosso
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
authors.forename: John C
authors.initials: JC
authors.lastname: van Swieten
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D000818:Animals; D018389:Codon, Nonsense; D003704:Dementia / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009426:Netherlands; D010375:Pedigree; D000077153:Progranulins
chemical_list: D018389:Codon, Nonsense; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins