Skip to main content Accessibility help
×
Home
Hostname: page-component-559fc8cf4f-9dmbd Total loading time: 2.404 Render date: 2021-02-27T02:06:07.807Z Has data issue: true Feature Flags: { "shouldUseShareProductTool": true, "shouldUseHypothesis": true, "isUnsiloEnabled": true, "metricsAbstractViews": false, "figures": false, "newCiteModal": false, "newCitedByModal": true }

Acquired Microcephaly in a Patient with HECW2 Mutation

Published online by Cambridge University Press:  20 August 2020

Tyler Peikes
Affiliation:
Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada
Aoife O’Carroll
Affiliation:
Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada
Patrick Frosk
Affiliation:
Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada
Michael S. Salman
Affiliation:
Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada
Corresponding
E-mail address:

Abstract

Image of the first page of this article
Type
Letter to the Editor
Copyright
Copyright © The Author(s), 2020. Published by Cambridge University Press on behalf of The Canadian Journal of Neurological Sciences Inc.

Access options

Get access to the full version of this content by using one of the access options below.

References

Halvardson, J, Zhao, JJ, Zaghlool, A, et al. Mutations in HECW2 are associated with intellectual disability and epilepsy. J Med Genet. 2016;53(10):697704. doi: 10.1136/jmedgenet-2016-103814.CrossRefGoogle ScholarPubMed
Berko, ER, Cho, MT, Eng, C, et al. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017;54(2):9399. doi: 10.1136/jmedgenet-2016-103943.CrossRefGoogle ScholarPubMed
Nakamura, H, Uematsu, M, Numata-Uematsu, Y, et al. Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation. Brain Dev. 2018;40(5):410–14. doi: 10.1016/j.braindev.2017.12.015.CrossRefGoogle Scholar
Ullman, NL, Smith-Hicks, CL, Desai, S, Stafstrom, CE. De novo HECW2 mutation associated with epilepsy, developmental decline, and intellectual disability: case report and review of literature. Pediatr Neurol. 2018;85:7678. doi: 10.1016/j.pediatrneurol.2018.03.005.CrossRefGoogle ScholarPubMed
Seltzer, LE, Paciorkowski, AR. Genetic disorders associated with postnatal microcephaly. Am J Med Genet C Semin Med Genet. 2014;166C(2):140–55. doi: 10.1002/ajmg.c.31400.CrossRefGoogle ScholarPubMed
Miyazaki, K, Ozaki, T, Kato, C, et al. A novel HECT-type E3 ubiquitin ligase, NEDL2, stabilizes p73 and enhances its transcriptional activity. Biochem Biophys Res Commun. 2003;308(1):106–13. doi: 10.1016/s0006-291x(03)01347-0.CrossRefGoogle ScholarPubMed
Choi, KS, Choi, HJ, Lee, JK, et al. The endothelial E3 ligase HECW2 promotes endothelial cell junctions by increasing AMOTL1 protein stability via K63-linked ubiquitination. Cell Signal. 2016;28(11):1642–51. doi: 10.1016/j.cellsig.2016.07.015.CrossRefGoogle ScholarPubMed
Krishnamoorthy, V, Khanna, R, Parnaik, VK. E3 ubiquitin ligase HECW2 targets PNCA and lamin B1. Biochim Biophys Acta Mol Cell Res. 2018;1865(8):1088–104. doi: 10.1016/j.bbamcr.2018.05.008.CrossRefGoogle Scholar
Rollins, JD, Collins, JS, Holden, KR. United States head circumference growth reference charts: birth to 21 years. J Pediatr. 2010;156(6):907913.e2. doi: 10.1016/j.jpeds.2010.01.009.CrossRefGoogle ScholarPubMed

Full text views

Full text views reflects PDF downloads, PDFs sent to Google Drive, Dropbox and Kindle and HTML full text views.

Total number of HTML views: 8
Total number of PDF views: 63 *
View data table for this chart

* Views captured on Cambridge Core between 20th August 2020 - 27th February 2021. This data will be updated every 24 hours.

Send article to Kindle

To send this article to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Acquired Microcephaly in a Patient with HECW2 Mutation
Available formats
×

Send article to Dropbox

To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

Acquired Microcephaly in a Patient with HECW2 Mutation
Available formats
×

Send article to Google Drive

To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

Acquired Microcephaly in a Patient with HECW2 Mutation
Available formats
×
×

Reply to: Submit a response


Your details


Conflicting interests

Do you have any conflicting interests? *