A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.
Article Details
- CitationCopy to clipboard
Yeo GS, Connie Hung CC, Rochford J, Keogh J, Gray J, Sivaramakrishnan S, O'Rahilly S, Farooqi IS
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.
Nat Neurosci. 2004 Nov;7(11):1187-9. Epub 2004 Oct 24.
- PubMed ID
- 15494731 [ View in PubMed]
- 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.