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  Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Kantaputra, P. N., Klopocki, E., Hennig, B. P., Praphanphoj, V., Le Caignec, C., Isidor, B., et al. (2010). Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. European Journal of Human Genetics, 18(12), 1310-1314. doi:10.1038/ejhg.2010.116.

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Genre: Journal Article
Alternative Title : Eur J Hum Genet

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ejhg2010116a.pdf (Any fulltext), 304KB
 
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Kantaputra, P. N., Author
Klopocki, E.1, Author           
Hennig, B. P.2, Author
Praphanphoj, V., Author
Le Caignec, C., Author
Isidor, B., Author
Kwee, M. L., Author
Shears, D. J., Author
Mundlos, S.1, Author           
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Max Planck Society, ou_persistent13              

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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
 Abstract: 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.

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Language(s): eng - English
 Dates: 2010-07-21
 Publication Status: Issued
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Title: European Journal of Human Genetics
  Alternative Title : Eur J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 18 (12) Sequence Number: - Start / End Page: 1310 - 1314 Identifier: ISSN: 1018-481