Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1

Tyler B. Johnson, Keegan Mechels, Ruth Ellen Anderson, Jacob T. Cain, David A. Sturdevant, Stephen Braddock, Hailey Pinz, Mark A. Wilson, Megan Landsverk, Kyle J. Roux, Jill M. Weimer

Research output: Contribution to journalArticle

Abstract

Haploinsufficiency of Forkhead box protein P1 (FOXP1), a highly conserved transcription factor, leads to developmental delay, intellectual disability, autism spectrum disorder, speech delay, and dysmorphic features. Most of the reported FOXP1 mutations occur on the C-terminus of the protein and cluster around to the forkhead domain. All reported FOXP1 pathogenic variants result in abnormal cellular localization and loss of transcriptional repression activity of the protein product. Here we present three patients with the same FOXP1 mutation, c.1574G>A (p.R525Q), that results in the characteristic loss of transcription repression activity. This mutation, however, represents the first reported FOXP1 mutation that does not result in cytoplasmic or nuclear aggregation of the protein but maintains normal nuclear localization.

Original languageEnglish (US)
Article number16161
JournalScientific reports
Volume8
Issue number1
DOIs
StatePublished - Dec 1 2018

ASJC Scopus subject areas

  • General

Fingerprint Dive into the research topics of 'Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1'. Together they form a unique fingerprint.

  • Cite this

    Johnson, T. B., Mechels, K., Anderson, R. E., Cain, J. T., Sturdevant, D. A., Braddock, S., Pinz, H., Wilson, M. A., Landsverk, M., Roux, K. J., & Weimer, J. M. (2018). Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1. Scientific reports, 8(1), [16161]. https://doi.org/10.1038/s41598-018-34437-0