Progranulin mutations in Dutch familial frontotemporal lobar degeneration

Eur J Hum Genet. 2007 Mar;15(3):369-74. doi: 10.1038/sj.ejhg.5201772. Epub 2007 Jan 17.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Animals
  • Codon, Nonsense
  • Dementia / genetics*
  • Female
  • Frameshift Mutation*
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation, Missense*
  • Netherlands
  • Pedigree
  • Progranulins


  • Codon, Nonsense
  • GRN protein, human
  • Intercellular Signaling Peptides and Proteins
  • Progranulins