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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



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ID: 538393.0, MPI für molekulare Genetik / Research Group Development and Disease
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
Authors:Kantaputra, P. N.; Klopocki, E.; Hennig, B. P.; Praphanphoj, V.; Le Caignec, C.; Isidor, B.; Kwee, M. L.; Shears, D. J.; Mundlos, S.
Language:English
Research Context:his work was supported by grants from the Deutsche Forschungsgemeinschaft to SM and EK, and the Thailand Research Fund (TRF) to PK.
Date of Publication (YYYY-MM-DD):2010-07-21
Title of Journal:European Journal of Human Genetics
Journal Abbrev.:Eur J Hum Genet
Volume:18
Issue / Number:12
Start Page:1310
End Page:1314
Copyright:© 2011 European Society of Human Genetics
Review Status:not specified
Audience:Not Specified
Abstract / Description:Mesomelic dysplasia Kantaputra type (MDK) is characterized by marked mesomelic shortening of the upper and lower limbs originally described in a Thai family. To identify the cause of MDK, we performed array CGH and identified two microduplications on chromosome 2 (2q31.1-q31.2) encompassing approximately 481 and 507 kb, separated by a segment of normal copy number. The more centromeric duplication encompasses the entire HOXD cluster, as well as the neighboring genes EVX2 and MTX2. The breakpoints of the duplication localize to the same region as the previously identified inversion of the mouse mutant ulnaless (Ul), which has a similar phenotype as MDK. We propose that MDK is caused by duplications that modify the topography of the locus and as such result in deregulation of HOXD gene expression.
Free Keywords:Animals;
Base Pairing/genetics;
Bone Diseases, Developmental/genetics;
Chromosomes, Human, Pair 2/genetics;
Comparative Genomic Hybridization;
Fibula/abnormalities;
Foot Deformities/genetics;
Gene Expression Regulation, Developmental;
Genes, Homeobox/genetics;
Genetic Loci/genetics;
Genetic Predisposition to Disease;
Homeodomain Proteins/genetics/metabolism;
Humans;
Mice;
Radius/abnormalities;
Trisomy/genetics;
Ulna/abnormalities
Comment of the Author/Creator:Correspondence: Dr S Mundlos, Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. Tel: +49 30 450 569 122; Fax: +49 30 450 569 915;
E-mail: stefan.mundlos@charite.de
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Department of Pediatric Dentistry, Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand;
2.Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, Berlin, Germany;
3.Genetic Laboratory Rajanukul Institute, Bangkok, Thailand;
4.Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France;
5.INSERM, UMR915, l’institut du thorax, Nantes, France;
6.Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands;
7.Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK.
Identifiers:ISSN:1018-481 [ID No:1]
URL:http://www.ncbi.nlm.nih.gov/pubmed/20648051 [ID No:2]
DOI:10.1038/ejhg.2010.116 [ID No:3]
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