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- Title
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.
- Authors
Yeo, Giles S H; Connie Hung, Chiao-Chien; Rochford, Justin; Keogh, Julia; Gray, Juliette; Sivaramakrishnan, Shoba; O'Rahilly, Stephen; Farooqi, I Sadaf
- 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.
- Publication
Nature neuroscience, 2004, Vol 7, Issue 11, p1187
- ISSN
1097-6256
- Publication type
Journal Article
- DOI
10.1038/nn1336