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5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.

Fabiola Quintero-RiveraCeleste C EnoChristine SutantoKelly L JonesMałgorzata J M NowaczykDerek WongDawn EarlGhayda MirzaaAnita E BeckJulian A Martinez
Published in: Human genetics (2021)
Given that we show mTOR inhibition as a likely mechanism and amelioration of the phenotype by leucine supplementation in a fly model, we suggest further studies should evaluate the therapeutic potential of leucine or branched chain amino acids as an adjunct possible treatment to ameliorate human growth and psychiatric phenotypes and propose inclusion of 5q35-microduplication as part of the differential diagnosis for children and adults with delayed bone age, short stature, microcephaly, developmental delay, and psychiatric phenotypes.
Keyphrases
  • cell proliferation
  • mental health
  • endothelial cells
  • amino acid
  • zika virus
  • young adults
  • signaling pathway
  • intellectual disability
  • transcription factor
  • soft tissue
  • body composition
  • combination therapy
  • bone loss