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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
Affiliation:University Department of Clinical Biochemistry, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge CB2 2XY, UK.
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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