Three Brothers With Autism Carry a Stop-Gain Mutation in the HPA-Axis Gene NR3C2

Holly N. Cukier, Anthony J. Griswold, Natalia K. Hofmann, Lissette Gomez, Patrice L. Whitehead, Ruth K. Abramson, John R. Gilbert, Michael L. Cuccaro, Derek M. Dykxhoorn, Margaret A. Pericak-Vance

Research output: Contribution to journalArticle

Abstract

Whole exome sequencing and copy-number variant analysis was performed on a family with three brothers diagnosed with autism. Each of the siblings shares an alteration in the nuclear receptor subfamily 3 group C member 2 (NR3C2) gene that is predicted to result in a stop-gain mutation (p.Q919X) in the mineralocorticoid receptor (MR) protein. This variant was maternally inherited and provides further evidence for a connection between the NR3C2 and autism. Interestingly, the NR3C2 gene encodes the MR protein, a steroid hormone-regulated transcription factor that acts in the hypothalamic–pituitary–adrenal axis and has been connected to stress and anxiety, both of which are features often seen in individuals with autism. Autism Res 2020, 13: 523–531.

Original languageEnglish (US)
Pages (from-to)523-531
Number of pages9
JournalAutism Research
Volume13
Issue number4
DOIs
StatePublished - Apr 1 2020

Keywords

  • hypothalamic–pituitary–adrenal (HPA) axis
  • mineralocorticoid receptor (MR)
  • nuclear receptor subfamily 3 group C member 2 (NR3C2)
  • whole exome sequencing

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology
  • Genetics(clinical)

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