English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
 
 
DownloadE-Mail
  High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

Kariminejad, R., Lind-Thomsen, A., Tumer, Z., Erdogan, F., Ropers, H. H., Tommerup, N., et al. (2011). High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat, 32(12), 1427-35. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21882292 http://onlinelibrary.wiley.com/store/10.1002/humu.21585/asset/21585_ftp.pdf?v=1&t=gywonzg7&s=b0e550df2737015534749f71f89374c863bc9e7a.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7961-E Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7962-C
Genre: Journal Article

Files

show Files

Locators

show

Creators

show
hide
 Creators:
Kariminejad, R., Author
Lind-Thomsen, A., Author
Tumer, Z., Author
Erdogan, F.1, Author              
Ropers, H. H.1, Author              
Tommerup, N., Author
Ullmann, R.2, Author              
Moller, R. S., Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

Content

show
hide
Free keywords: -
 Abstract: During the past years, significant advances have been made in our understanding of the development of the human brain, and much of this knowledge comes from genetic studies of disorders associated with abnormal brain development. We employed array-comparative genomic hybridization (CGH) to investigate copy number variants (CNVs) in a cohort of 169 patients with various structural brain malformations including lissencephaly, polymicrogyria, focal cortical dysplasia, and corpus callosum agenesis. The majority of the patients had intellectual disabilities (ID) and suffered from symptomatic epilepsy. We detected at least one rare CNV in 38 patients (22.5%). All genes located within the rare CNVs were subjected to enrichment analysis for specific Gene Ontology Terms or Kyoto Encyclopedia of Genes and Genomes pathways and to protein-protein network analysis. Based on these analyses, we propose that genes involved in "axonal transport," "cation transmembrane transporter activity," and the "c-Jun N-terminal kinase (JNK) cascade" play a significant role in the etiology of brain malformations. This is to the best of our knowledge the first systematic study of CNVs in patients with structural brain malformations and our data show that CNVs play an important role in the etiology of these malformations, either as direct causes or as genetic risk factors.

Details

show
hide
Language(s):
 Dates: 2011
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Hum Mutat
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 32 (12) Sequence Number: - Start / End Page: 1427 - 35 Identifier: ISSN: 1098-1004 (Electronic) 1059-7794 (Linking)