Publikation: Mutation of HERC2 causes developmental delay with Angelman-like features
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2013
Autor:innen
Harlalka, Gaurav V.
Baple, Emma L.
Cross, Harold
Cubillos-Rojas, Monica
Patton, Michael A.
Wagner, Karin
Coblentz, Roselyn
Ford, Debra L.
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Journal of Medical Genetics. 2013, 50(2), pp. 65-73. ISSN 0022-2593. eISSN 1468-6244. Available under: doi: 10.1136/jmedgenet-2012-101367
Zusammenfassung
BACKGROUND
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.
METHODS AND RESULTS
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.
CONCLUSIONS
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.
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570 Biowissenschaften, Biologie
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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. 2013, 50(2), pp. 65-73. ISSN 0022-2593. eISSN 1468-6244. Available under: doi: 10.1136/jmedgenet-2012-101367BibTex
@article{Harlalka2013-02Mutat-21937,
year={2013},
doi={10.1136/jmedgenet-2012-101367},
title={Mutation of HERC2 causes developmental delay with Angelman-like features},
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.}
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<dcterms:abstract xml:lang="eng">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.</dcterms:abstract>
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