A de novo mutation affecting human TrkB associated with severe obesity and developmental delay
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay
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DOI：
10.1038/nn1336
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发表时间：
2004-11-01
影响因子：
25
通讯作者：
Farooqi, IS
中科院分区：
文献类型：
--
作者：
Yeo, GSH;Hung, CCC;Farooqi, IS
一名患有复杂发育综合征和严重肥胖症的8岁男性为杂合子，其新生错义突变导致神经营养因子受体TrkB中的Y722C取代。这种突变明显损害了受体的自磷酸化和MAP激酶的信号转导。编码TrkB的NTRK2的突变似乎导致了一种独特的人类过度吞噬性肥胖综合征。在先证者中观察到的记忆、学习和伤害感受的相关损害反映了TrkB在人类神经系统中的关键作用。
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.