Mutation of HERC2 causes developmental delay with Angelman-like features

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HARLALKA, Gaurav V., Emma L. BAPLE, Harold CROSS, Simone KÜHNLE, Monica CUBILLOS-ROJAS, Konstantin MATENTZOGLU, Michael A. PATTON, Karin WAGNER, Roselyn COBLENTZ, Debra L. FORD, Deborah J. G. MACKAY, Barry A. CHIOZA, Martin SCHEFFNER, Jose Luis ROSA, Andrew H. CROSBY, 2013. Mutation of HERC2 causes developmental delay with Angelman-like features. In: Journal of Medical Genetics. 50(2), pp. 65-73. ISSN 0022-2593. eISSN 1468-6244

@article{Harlalka2013-02Mutat-21937, title={Mutation of HERC2 causes developmental delay with Angelman-like features}, year={2013}, doi={10.1136/jmedgenet-2012-101367}, number={2}, volume={50}, issn={0022-2593}, journal={Journal of Medical Genetics}, pages={65--73}, author={Harlalka, Gaurav V. and Baple, Emma L. and Cross, Harold and Kühnle, Simone and Cubillos-Rojas, Monica and Matentzoglu, Konstantin and Patton, Michael A. and Wagner, Karin and Coblentz, Roselyn and Ford, Debra L. and Mackay, Deborah J. G. and Chioza, Barry A. and Scheffner, Martin and Rosa, Jose Luis and Crosby, Andrew H.} }

Journal of Medical Genetics ; 50 (2013), 2. - S. 65-73 2013-03-12T09:59:20Z Kühnle, Simone deposit-license Coblentz, Roselyn Matentzoglu, Konstantin Chioza, Barry A. Cross, Harold Cross, Harold Cubillos-Rojas, Monica Matentzoglu, Konstantin Wagner, Karin Rosa, Jose Luis Crosby, Andrew H. Harlalka, Gaurav V. Ford, Debra L. Patton, Michael A. Patton, Michael A. Baple, Emma L. BACKGROUND<br />Deregulation of the activity of the ubiquitin ligase E6AP (UBE3A) is well recognised to contribute to the development of Angelman syndrome (AS). The ubiquitin ligase HERC2, encoded by the HERC2 gene is thought to be a key regulator of E6AP.<br /><br /><br />METHODS AND RESULTS<br />Using a combination of autozygosity mapping and linkage analysis, we studied an autosomal-recessive neurodevelopmental disorder with some phenotypic similarities to AS, found among the Old Order Amish. Our molecular investigation identified a mutation in HERC2 associated with the disease phenotype. We establish that the encoded mutant HERC2 protein has a reduced half-life compared with its wild-type counterpart, which is associated with a significant reduction in HERC2 levels in affected individuals.<br /><br /><br />CONCLUSIONS<br />Our data implicate a model in which disruption of HERC2 function relates to a reduction in E6AP activity resulting in neurodevelopmental delay, suggesting a previously unrecognised role of HERC2 in the pathogenesis of AS. Scheffner, Martin Mackay, Deborah J. G. Wagner, Karin Coblentz, Roselyn Kühnle, Simone Baple, Emma L. Mutation of HERC2 causes developmental delay with Angelman-like features eng Mackay, Deborah J. G. Harlalka, Gaurav V. Rosa, Jose Luis 2013-02 2013-03-12T09:59:20Z Ford, Debra L. Scheffner, Martin Cubillos-Rojas, Monica Crosby, Andrew H. Chioza, Barry A.

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