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  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.

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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              

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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.

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

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Title: Human Mutation
  Other : Hum Mut
Source Genre: Journal
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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