A de novo mutation affecting human TrkB associated with severe obesity and developmental delay - PubMed (original) (raw)

Comparative Study

doi: 10.1038/nn1336. Epub 2004 Oct 24.

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Comparative Study

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

Giles S H Yeo et al. Nat Neurosci. 2004 Nov.

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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