A W148R mutation in the human FOXD4 gene segregating with dilated cardiomyopathy, obsessive-compulsive disorder, and suicidality

Piercarlo Minoretti, Mariarosa Arra, Enzo Emanuele, Valentina Olivieri, Alessia Aldeghi, Pierluigi Politi, Valentina Martinelli, Sara Pesenti, Colomba Falcone

Research output: Contribution to journalArticle

Abstract

The forkhead/winged helix box (FOX) gene family comprises at least 43 different genes encoding transcriptional factors with a highly conserved DNA-binding domain. To date, mutations in members of the FOX gene family have been causally linked to a variety of different human diseases. We describe a three-generation Albanian pedigree in which a complex phenotype consisting of dilated cardiomyopathy, obsessive-compulsive disorder, and suicidality is segregated with a missense mutation (W148R) in the human FOXD4 gene. This mutation disrupts an extremely highly conserved tryptophan residue in the forkhead domain of FOXD4, possibly resulting in reduced DNA binding capacity and altered transcriptional activity. Our present findings widen the spectrum of diseases associated with genetic aberrations in the forkhead gene family.

Original languageEnglish
Pages (from-to)369-372
Number of pages4
JournalInternational Journal of Molecular Medicine
Volume19
Issue number3
Publication statusPublished - Mar 2007

Keywords

  • Candidate gene
  • Cardiomyopathy
  • Forkhead
  • Mutation analysis
  • Obsessive-compulsive disorder
  • Suicidality

ASJC Scopus subject areas

  • Genetics

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    Minoretti, P., Arra, M., Emanuele, E., Olivieri, V., Aldeghi, A., Politi, P., Martinelli, V., Pesenti, S., & Falcone, C. (2007). A W148R mutation in the human FOXD4 gene segregating with dilated cardiomyopathy, obsessive-compulsive disorder, and suicidality. International Journal of Molecular Medicine, 19(3), 369-372.