English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Variants in CUL4B are Associated with Cerebral Malformations

Vulto-van Silfhout, A. T., Nakagawa, T., Bahi-Buisson, N., Haas, S. A., Hu, H., Bienek, M., et al. (2015). Variants in CUL4B are Associated with Cerebral Malformations. Human Mutation, 36(1), 106-117. doi:10.1002/humu.22718.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-7AC9-C Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002A-609C-6
Genre: Journal Article

Files

show Files
hide Files
:
Vulto-van Silfhout.pdf (Publisher version), 2MB
Name:
Vulto-van Silfhout.pdf
Description:
-
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
-
Copyright Info:
© 2015 John Wiley & Sons, Inc.
License:
-

Locators

show

Creators

show
hide
 Creators:
Vulto-van Silfhout, Anneke T., Author
Nakagawa, Tadashi , Author
Bahi-Buisson, Nadia, Author
Haas, Stefan A.1, Author              
Hu, Hao2, Author              
Bienek, Melanie2, Author              
Vissers, Lisenka E. L. M., Author
Gilissen, Christian, Author
Tzschach, Andreas, Author
Busche, Andreas, Author
Müsebeck, Jörg, Author
Rump, Patrick, Author
Mathijssen, Inge B., Author
Avela, Kristiina, Author
Somer, Mirja, Author
Doagu, Fatma, Author
Philips, Anju K. , Author
Rauch, Anita, Author
Baumer, Alessandra, Author
Voesenek, Krysta , Author
Poirier, Karine , AuthorVigneron, Jacqueline , AuthorAmram, Daniel, AuthorOdent, Sylvie , AuthorNawara, Magdalena , AuthorObersztyn, Ewa, AuthorLenart, Jacek, AuthorCharzewska, Agnieszka , AuthorLebrun, Nicolas, AuthorFischer, Ute3, Author              Nillesen, Willy M. , AuthorYntema, Helger G. , AuthorJärvelä, Irma, AuthorRopers, Hans-Hilger2, Author              de Vries, Bert B. A. , AuthorBrunner, Han G., Authorvan Bokhoven, Hans, AuthorRaymond, F. Lucy , AuthorWillemsen, Michèl A. A. P. , AuthorChelly, Jamel , AuthorXiong, Yue, AuthorBarkovich, A. James , AuthorKalscheuer, Vera M.3, 4, Author              Kleefstra, Tjitske, Authorde Brouwer, Arjan P. M. , Author more..
Affiliations:
1Gene Structure and Array Design (Stefan Haas), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479640              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
4Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

Content

show
hide
Free keywords: CUL4B; WDR62; cortical dysplasia; hydrocephalus; intellectual disability; mutation
 Abstract: Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B.

Details

show
hide
Language(s): eng - English
 Dates: 2014-12-302015-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1002/humu.22718
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Human Mutation
  Other : Hum Mut
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: New York, N.Y. : Wiley-Liss
Pages: - Volume / Issue: 36 (1) Sequence Number: - Start / End Page: 106 - 117 Identifier: ISSN: 1098-1004 (Electronic)1059-7794 (Print)
CoNE: https://pure.mpg.de/cone/journals/resource/954925597586