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          Institute: MPI für molekulare Genetik     Collection: Sequencing Group     Display Documents

ID: 305408.0, MPI für molekulare Genetik / Sequencing Group
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation
Authors:Tzschach, Andreas; Lenzner, Steffen; Moser, Bettina; Reinhardt, Richard; Chelly, Jamel; Fryns, Jean-Pierre; Kleefstra, Tjitske; Raynaud, Martine; Turner, Gillian; Ropers, Hans-Hilger; Kuss, Andreas; Jensen, Lars Riff
Research Context:th European Union Framework, Deutsches Humangenom-Programm, and Nationales Genomforschungsnetzwerk; Grant Number: QLG3-CT-2002-01810, 01KW99087, 01GR0105
Date of Publication (YYYY-MM-DD):2006-03-15
Title of Journal:Human Mutation
Journal Abbrev.:Hum Mutat
Issue / Number:4
Start Page:389
End Page:389
Copyright:© 2006 Wiley-Liss, Inc.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:JARID1C • SMCX • X-linked mental retardation
Comment of the Author/Creator:Communicated by Andreas Gal
Correspondence to Andreas Tzschach, Max Planck Institute for Molecular Genetics, Department Ropers, Ihnestr. 73, 14195 Berlin, Germany
External Publication Status:published
Document Type:Article
Communicated by:Richard Reinhardt
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Institut Cochin de Génétique Moleculaire, CNRS/INSERM, CHU Cochin, Paris, France;
2.Center for Human Genetics, Clinical Genetics Unit, Leuven, Belgium;
3.Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands;
4.Services de Génétique-INSERM U316, CHU Bretonneau, Tours, France;
5.Genetics of Learning Disability (GOLD) Service, Hunter Genetics, University of Newcastle, New South Wales, Australia.
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