2. Academic Validation
  3. A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

  • Nat Neurosci. 2004 Nov;7(11):1187-9. doi: 10.1038/nn1336.
Giles S H Yeo 1,  Chiao-Chien Connie Hung,  Justin Rochford,  Julia Keogh,  Juliette Gray,  Shoba Sivaramakrishnan,  Stephen O'Rahilly,  I Sadaf Farooqi
Affiliations

Affiliation

  • 1 University Department of Clinical Biochemistry, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge CB2 2XY, UK.
PMID: 15494731 DOI: 10.1038/nn1336
Abstract

An 8-year-old male with a complex developmental syndrome and severe obesity was heterozygous for a de novo missense mutation resulting in a Y722C substitution in the neurotrophin receptor TrkB. This mutation markedly impaired receptor autophosphorylation and signaling to MAP kinase. Mutation of NTRK2, which encodes TrkB, seems to result in a unique human syndrome of hyperphagic obesity. The associated impairment in memory, learning and nociception seen in the proband reflects the crucial role of TrkB in the human nervous system.

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