Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia

Neurocase. 2010 Jun;16(3):273-9. doi: 10.1080/13554790903456209. Epub 2010 Jan 18.

Abstract

Schizophrenia has been linked to a region on chromosome 17q21 in Latino populations (Escamilla et al., 2009). Mutations of a gene at this location (GRN) are associated with frontotemporal dementia. A recent study demonstrated that patients with frontotemporal dementia who presented with symptoms of schizophrenia show neuropathological findings consistent with GRN mutations, but were not tested for GRN mutations (Velakoulis, Walterfang, Mocellin, Pantelis, & McLean, 2009). The current study describes a Latino family in which two siblings have schizophrenia and one has frontotemporal dementia. We sequenced GRN in one of the siblings with frontotemporal dementia and one of the siblings with schizophrenia. The siblings both have a loss-of-function GRN mutation. This finding, in conjunction with other studies (Escamilla et al., 2009; Velakoulis et al., 2009), suggests that there may be an association between schizophrenia, frontotemporal dementia, and GRN mutations in Latino populations that should be investigated further.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Family
  • Female
  • Frontotemporal Dementia / genetics
  • Genetic Predisposition to Disease
  • Genotype
  • Hispanic or Latino / genetics
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Progranulins
  • Schizophrenia / genetics*
  • Siblings*

Substances

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