Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

被引：37

作者：

Backx, Liesbeth ^{[1
]}

Ceulemans, Berten ^{[2
]}

Vermeesch, Joris Robert ^{[1
]}

Devriendt, Koen ^{[1
]}

Van Esch, Hilde ^{[1
]}

机构：

[1] Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium

[2] Rehabil & Epilepsy Ctr Children & Youth, Pulderbos, Belgium

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2009年 / 17卷 / 03期

关键词：

early myoclonic encephalopathy; epilepsy; ErbB4; translocation; EPILEPTIC ENCEPHALOPATHY; MENTAL-RETARDATION; INFANTILE SPASMS; CDKL5; MUTATIONS; CEREBRAL-CORTEX; MICE LACKING; GENE; EXPRESSION; INTERNEURONS; HIPPOCAMPUS;

D O I：

10.1038/ejhg.2008.180

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：378 / 382

页数：5

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