English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
 
 
DownloadE-Mail
  A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1

Buonincontri, R., Bache, I., Silahtaroglu, A., Elbro, C., Nielsen, A. M., Ullmann, R., et al. (2011). A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1. Behav Genet, 41(1), 125-33. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20798984 http://www.springerlink.com/content/8617511w5k714446/fulltext.pdf.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7938-C Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7939-A
Genre: Journal Article

Files

show Files

Locators

show

Creators

show
hide
 Creators:
Buonincontri, R., Author
Bache, I., Author
Silahtaroglu, A., Author
Elbro, C., Author
Nielsen, A. M., Author
Ullmann, R.1, Author              
Arkesteijn, G., Author
Tommerup, N., Author
Affiliations:
1Molecular 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: Adult; Amniocentesis; Basic Helix-Loop-Helix Transcription Factors/*genetics; Child; Chromosome Mapping; Chromosomes, Human, Pair 15/genetics; Chromosomes, Human, Pair 6/genetics; Cohort Studies; Cyclic Nucleotide Phosphodiesterases, Type 7/*genetics; Denmark; Dyslexia/*genetics; Female; *Genetic Association Studies; Heterozygote Detection; Humans; Karyotyping; Male; Nerve Tissue Proteins/*genetics; Nuclear Proteins/*genetics; Pedigree; Phenotype; Polymorphism, Single Nucleotide/genetics; Pregnancy; Translocation, Genetic/*genetics; Zinc Fingers/*genetics
 Abstract: Dyslexia is one of the most common neurodevelopmental disorders where likely many genes are involved in the pathogenesis. So far six candidate dyslexia genes have been proposed, and two of these were identified by rare chromosomal translocations in affected individuals. By systematic re-examination of all translocation carriers in Denmark, we have identified 16 different translocations associated with dyslexia. In four families, where the translocation co-segregated with the phenotype, one of the breakpoints concurred (at the cytogenetic level) with either a known dyslexia linkage region--at 15q21 (DYX1), 2p13 (DYX3) and 1p36 (DYX8)--or an unpublished linkage region at 19q13. As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21 breakpoint.

Details

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

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Behav Genet
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 41 (1) Sequence Number: - Start / End Page: 125 - 33 Identifier: ISSN: 1573-3297 (Electronic) 0001-8244 (Linking)