ArticleEuropean journal of human genetics : EJHG2010
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed.
- De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline.American journal of medical genetics. Part A · 2026Article
- Genome wide landscaping of copy number variations for horse inter-breed variability.Animal biotechnology · 2025Article
- The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.American journal of human genetics · 2024Article
- Genetic cold cases: lessons from solving complex congenital limb disorders.Genes & development · 2023Review
- Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocations.Nature communications · 2021Article
- High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders.Frontiers in endocrinology · 2019Review
- Comparison of sequencing based CNV discovery methods using monozygotic twin quartets.PloS one · 2015Article
- Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.Human genetics · 2014Review
- Functional and topological characteristics of mammalian regulatory domains.Genome research · 2014Article
- Analysis of copy number variations in the sheep genome using 50K SNP BeadChip array.BMC genomics · 2013Article
- Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.European journal of human genetics : EJHG · 2011Article
- Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.American journal of human genetics · 2011Article
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9 authors.
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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 ∼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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