A de novo mutation affecting human TrkB associated with severe obesity and developmental delay
GSH Yeo, CC Connie Hung, J Rochford, J Keogh… - Nature …, 2004 - nature.com
Nature neuroscience, 2004•nature.com
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 …
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 …
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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