由神经调节蛋白-1受体ErbB4破坏引起的早期肌阵挛性脑病。
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4.
作者信息
Backx Liesbeth, Ceulemans Berten, Vermeesch Joris Robert, Devriendt Koen, Van Esch Hilde
机构信息
Center for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, Leuven, Belgium.
出版信息
Eur J Hum Genet. 2009 Mar;17(3):378-82. doi: 10.1038/ejhg.2008.180. Epub 2008 Oct 15.
Abstract
The tyrosine kinase receptor ErbB4 (erythroblastic leukemia viral oncogene homolog 4) plays a crucial role in numerous neurobiological processes in the developing and adult brain. Moreover, recent molecular genetics studies implicate ErbB4 in the pathophysiology of schizophrenia. However, the phenotypic consequences of haploinsufficiency of ErbB4 are not known, as no coding mutations have been identified until now. Here, we present a patient with early myoclonic encephalopathy and profound psychomotor delay with a de novo reciprocal translocation t(2;6)(q34;p25.3), disrupting the ErbB4 gene. This patient represents the first case of haploinsufficiency for one of the ErbB family members of tyrosine kinase receptors.
摘要
酪氨酸激酶受体ErbB4（成红细胞白血病病毒癌基因同源物4）在发育中和成年大脑的众多神经生物学过程中起着至关重要的作用。此外，最近的分子遗传学研究表明ErbB4参与了精神分裂症的病理生理学过程。然而，由于迄今为止尚未发现编码突变，ErbB4单倍剂量不足的表型后果尚不清楚。在此，我们报告一名患有早期肌阵挛性脑病和严重精神运动发育迟缓的患者，其发生了新生的相互易位t(2;6)(q34;p25.3)，破坏了ErbB4基因。该患者代表了酪氨酸激酶受体ErbB家族成员之一单倍剂量不足的首例病例。
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