Journal
NATURE NEUROSCIENCE
Volume 7, Issue 11, Pages 1187-1189Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nn1336
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Funding
- Wellcome Trust [068086] Funding Source: Medline
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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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