Mutation of HERC2 causes developmental delay with Angelman-like features

@article{Harlalka2012MutationOH,
  title={Mutation of HERC2 causes developmental delay with Angelman-like features},
  author={Gaurav V Harlalka and Emma L. Baple and Harold E Cross and Simone Kühnle and Monica Cubillos-Rojas and Konstantin Matentzoglu and Michael A. Patton and Karin Wagner and Roselyn Coblentz and Debra L Ford and Deborah J G Mackay and Barry A. Chioza and Martin Scheffner and Jose Luis Rosa and Andrew H. Crosby},
  journal={Journal of Medical Genetics},
  year={2012},
  volume={50},
  pages={65 - 73}
}
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… 

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Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

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Contiguous mutation syndrome in the era of high-throughput sequencing

It is proposed that the siblings' phenotype results from the combined effects of mutations in both AP4M1 and AZGP1 that account for the neurological signs and the morbid obesity of early onset, respectively.
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