English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

Tzschach, A., Lenzner, S., Moser, B., Reinhardt, R., Chelly, J., Fryns, J.-P., et al. (2006). Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Human Mutation, 27(4), 389-389. doi:10.1002/humu.9420.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8470-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8471-F
Genre: Journal Article
Alternative Title : Hum Mutat

Files

show Files
hide Files
:
fulltext_ID=112491351&PLACEBO=IE.pdf (Any fulltext), 172KB
 
File Permalink:
-
Name:
fulltext_ID=112491351&PLACEBO=IE.pdf
Description:
-
Visibility:
Restricted (Max Planck Institute for Molecular Genetics, MBMG; )
MIME-Type / Checksum:
application/pdf
Technical Metadata:
Copyright Date:
-
Copyright Info:
eDoc_access: INSTITUT
License:
-

Locators

show

Creators

show
hide
 Creators:
Tzschach, Andreas1, Author              
Lenzner, Steffen2, Author
Moser, Bettina2, Author
Reinhardt, Richard3, Author              
Chelly, Jamel, Author
Fryns, Jean-Pierre, Author
Kleefstra, Tjitske, Author
Raynaud, Martine, Author
Turner, Gillian, Author
Ropers, Hans-Hilger1, Author              
Kuss, Andreas4, Author              
Jensen, Lars Riff5, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3High Throughput Technologies, Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433552              
4Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
5Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

Content

show
hide
Free keywords: JARID1C • SMCX • X-linked mental retardation
 Abstract: X-linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this gene [Jensen LR et al., Am. J. Hum. Genet. 76:227-236, 2005]. Here, we report five novel JARID1C mutations in five XLMR families. The changes comprise one nonsense mutation (p.Arg332X) and four missense mutations (p.Asp87Gly; p.Phe642Leu; p.Arg750Trp; p.Tyr751Cys) affecting evolutionarily conserved amino acids. The degree of mental retardation in the affected males ranged from mild to severe, and some patients suffered from additional disorders such as epilepsy, short stature, or behavioral problems. This study brings the total number of reported JARID1C mutations to twelve. In contrast to other XLMR genes in which mutations were found only in single or very few families, JARID1C appears to be one of the more frequently mutated genes in this disorder.

Details

show
hide
Language(s): eng - English
 Dates: 2006-03-15
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 305410
DOI: 10.1002/humu.9420
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Human Mutation
  Alternative Title : Hum Mutat
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 27 (4) Sequence Number: - Start / End Page: 389 - 389 Identifier: ISSN: 1059-7794